Reference List - Chapter 7: Type 1 Diabetes Mellitus of Man: Genetic Susceptibility and Resistance

(1) Schranz DB, Lernmark A. Immunology in diabetes: an update. Diabetes Metab Rev 1998; 14(1):3-29.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9605628
(2) Mordes JP, Bortell R, Blankenhorn EP, Rossini AA, Greiner DL. Rat models of type 1 diabetes: genetics, environment, and autoimmunity. ILAR J 2004; 45(3):278-291.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15229375
(3) Chatenoud L. CD3-specific antibody-induced active tolerance: from bench to bedside. Nat Rev Immunol 2003; 3(2):123-132.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12563296
(4) Eisenbarth GS. Update in type 1 diabetes. J Clin Endocrinol Metab 2007; 92(7):2403-2407.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17904423&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(5) Yamamoto N, Fujita Y, Satoh S, Nakanami N, Sonoda N, Nakano H. Fulminant type 1 diabetes during pregnancy: A case report and review of the literature. J Obstet Gynaecol Res 2007; 33(4):552-556.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=17688629&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(6) Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57(4):1034-1042.
http://www.ncbi.nlm.nih.gov/pubmed/18162506?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(7) Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53(10):2713-2718.
(8) Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57(4):1034-1042.
http://www.ncbi.nlm.nih.gov/pubmed/18162506?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(9) Turner R, Stratton I, Horton V, Manley S, Zimmet P, Mackay IR et al. UKPDS 25: autoantibodies to islet-cell cytoplasm and glutamic acid decarboxylase for prediction of insulin requirement in type 2 diabetes. UK Prospective Diabetes Study Group. Lancet 1997; 350(9087):1288-1293.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9357409
(10) Fourlanos S, Dotta F, Greenbaum C, Palmer JP, Rolandsson O, Colman PG et al. Latent autoimmune diabetes in adults (LADA) should be less latent. diabetol 2005; 48:2206-2212.
(11) Risch N, Ghosh S, Todd JA. Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (NOD) mouse and human insulin- dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 53:702-714.
(12) Todd JA, Farrall M. Panning for gold: genome-wide scanning for linkage in type I diabetes. Hum Mol Genet 1996; 5:1443-1448.
(13) Rich SS. Mapping genes in diabetes: genetic epidemiological perspective. diab 1990; 39:1315-1319.
(14) Barnett AH, Eff C, Leslie RD, Pyke DA. Diabetes in identical twins. A study of 200 pairs. diabetol 1981; 20(2):87-93.
(15) Srikanta S, Ganda OP, Eisenbarth GS, Soeldner JS. Islet cell antibodies and beta cell function in monozygotic triplets and twins initially discordant for Type I diabetes mellitus. N Engl J Med 1983; 308(6):322-325.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=6337325
(16) Verge CF, Gianani R, Yu L, Pietropaolo M, Smith T, Jackson RA et al. Late progression to diabetes and evidence for chronic b-cell autoimmunity in identical twins of patients with type I diabetes. diab 1995; 44(10):1176-1179.
(17) Redondo MJ, Yu L, Hawa M, Mackenzie T, Pyke DA, Eisenbarth GS et al. Heterogeneity of type I diabetes: analysis of monozygotic twins in Great Britain and the United States. Diabetologia 2001; 44(3):354-362.
http://www.ncbi.nlm.nih.gov/pubmed/11317668?ordinalpos=23&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(18) Olmos P, A'Hearn R, Heaton DA, Millward BA, Risley D, Pyke DA et al. The significance of the concordance rate of type I (insulin-dependent) diabetes mellitus in identical twins. diabetol 1988; 31(10):747-750.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=3240835
(19) Hearne CM, Ghosh S, Todd JA. Microsatellites for linkage analysis of genetic traits. TIG 1992; 8:288-294.
(20) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(21) Lernmark ADLEGOJPMARPaSR. Human cell lines from families available for diabetes research. diabetol 1991;34-61.
(22) Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39(7):857-864.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17554260&ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(23) Aly TA, Ide A, Jahromi MM, Barker JM, Fernando MS, Babu SR et al. Extreme Genetic Risk for Type 1A Diabetes. Proc Natl Acad Sci USA 2006; 103(38):14074-14079.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16966600&query_hl=9&itool=pubmed_docsum(24) Redondo MJ, Rewers M, Yu L, Garg S, Pilcher CC, Elliott RB et al. Genetic determination of islet cell autoimmunity in monozygotic twin, dizygotic twin, and non-twin siblings of patients with type 1 diabetes: prospective twin study. BMJ 1999; 318:698-702.
(25) Gale EA, Bingley PJ, Eisenbarth GS, Redondo MJ, Kyvik KO, Petersen JS. Reanalysis of twin studies suggests that diabetes is mainly genetic. BMJ 2001; 323(7319):997A.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11679394
(26) Green A, Patterson CC. Trends in the incidence of childhood-onset diabetes in Europe. diabetol 2001; 44(Suppl 3):B3-B8.
(27) Hyttinen V, Kaprio J, Kinnunen M, Koskenvuo M, Tuomilehto J. Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: a nationwide follow-up study. Diabetes 2003; 52:1052-1055.
(28) Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36(4):337-338.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15004560
(29) Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC et al. A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis. Am J Hum Genet 2004; 75(2):330-337.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15208781
(30) Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE et al. Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE. Am J Hum Genet 2004; 75(3):504-507.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15273934
(31) Lambert AP, Gillespie KM, Thomson G, Cordell HJ, Todd JA, Gale EA et al. Absolute Risk of Childhood-Onset Type 1 Diabetes Defined by Human Leukocyte Antigen Class II Genotype: A Population-Based Study in the United Kingdom. J Clin Endocrinol Metab 2004; 89(8):4037-4043.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15292346
(32) Baschal EE, Aly TA, Babu SR, Fernando MS, Yu L, Miao D et al. HLA-DPB1*0402 Protects Against Type 1A Diabetic Autoimmunity in the Highest Risk DR3-DQB1*0201/DR4-DQB1*0302 DAISY Population. diab 2007; 56(9):2405-2409.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17513705
(33) Valdes AM, Thomson G, Graham J, Zarghami M, McNeney B, Kockum I et al. D6S265*15 marks a DRB1*15, DQB1*0602 haplotype associated with attenuated protection from type 1 diabetes mellitus. diabetol 2005; 48(12):2540-2543.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16320082
(34) Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A et al. Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1. Genes Immun 2003; 4(1):46-53.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12595901
(35) de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006; 38(10):1166-1172.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16998491
(36) Lie BA, Todd JA, Pociot F, Nerup J, Akselsen HE, Joner G et al. The Predisposition to Type 1 Diabetes Linked to the Human Leukocyte Antigen Complex Includes at Least One Non-Class II Gene. Am J Hum Genet 64, 793-800. 1999.
Ref Type: Journal (Full)
(37) Lie BA, Sollid LM, Ascher H, Ek J, Akselsen HE, Ronningen KS et al. A gene telomeric of the HLA class I region is involved in predisposition to both type 1 diabetes and coeliac disease. Tissue Antigens 1999; 54(2):162-168.
(38) Onengut-Gumuscu S, Concannon P. The genetics of type 1 diabetes: lessons learned and future challenges. J Autoimmun 2005; 25 Suppl:34-39.
(39) Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F et al. Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. diab 2005; 54(10):2995-3001.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16186404
(40) Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D et al. A functional variant of SUMO4, a new IkappaBalpha modifier, is associated with type 1 diabetes. Nat Genet 2004; 36(8):837-841.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15247916
(41) Steenkiste A, Valdes AM, Feolo M, Hoffman D, Concannon P, Noble J et al. 14th International HLA and Immunogenetics Workshop: report on the HLA component of type 1 diabetes. Tissue Antigens 2007; 69 Suppl 1:214-225.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=17445204&ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(42) Johnson AH, Hurley CK, Hartzman RJ, Alper CA, Yunis EJ. HLA: The major histocompatibility complex of man. In: Henry JB, editor. Clinical Diagnosis & Management by Laboratory Methods. Philadelphia: WB Saunders, 1991.
(43) Noble JA, Valdes AM, Cook M, Klitz W, Thomson G, Erlich HA. The role of HLA class II genes in insulin-dependent diabetes mellitus: Molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet 1996; 59(5):1134-1148.
(44) Cudworth AG, Woodrow JC. Evidence for HL-A-linked genes in "juvenile" diabetes mellitus. Br Med J 1975; 3(5976):133-135.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1139259
(45) Cudworth AG, Woodrow JC. Genetic susceptibility in diabetes mellitus: analysis of the HLA association. Br Med J 1976; 2(6040):846-848.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=990715
(46) Deschamps I, Lestradet H, Bonaiti C, Schmid M, Busson M, Benajam A et al. HLA genotype studies in juvenile insulin-dependent diabetes. diabetol 1980; 19(3):189-193.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7409364
(47) Rotter JI, Anderson CE, Rubin R, Congleton JE, Terasaki PI, Rimoin DL. HLA genotypic study of insulin-dependent diabetes.  The excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis. diab 1983; 32:169.
(48) Wolf E, Spencer KM, Cudworth AG. The genetic susceptibility to Type 1 (insulin-dependent) diabetes: Analysis of the HLA-DR association. diabetol 1983; 24:224-230.
(49) Lie BA, Thorsby E. Several genes in the extended human MHC contribute to predisposition to autoimmune diseases. Curr Opin Immunol 2005; 17(5):526-531.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16054351
(50) Erlich H, Valdes AM, Noble J, Carlson JA, Varney M, Concannon P et al. HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk: Analysis of the Type 1 Diabetes Genetics Consortium Families. Diabetes 2008; Epub Ahead of Print.
(51) Robles DT, Eisenbarth GS, Wang T, Erlich HA, Bugawan TL, Babu SR et al. Millennium award recipient contribution. Identification of children with early onset and high incidence of anti-islet autoantibodies. Clin Immunol 2002; 102(3):217-224.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11890708
(52) Thomson G, Robinson WP, Kuhner MK, Joe S, MacDonald MJ, Gottschall JL et al. Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet 1988; 43(6):799-816.
(53) Todd JA, Bell JI, McDevitt HO. HLA-DQB gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 1987; 329(6140):599-604.
http://www.ncbi.nlm.nih.gov/pubmed/3309680?ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(54) Horn GT, Bugawan TL, Long CM, Erlich HA. Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes mellitus susceptibility. Proc Natl Acad Sci USA 1988; 85(16):6012-6016.
(55) Sheehy MJ, Scharf SJ, Rowe JR, Neme de Gimenez MH, Meske LM, Erlich HA et al. A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 1989; 83(3):830-835.
(56) Morel PA, Dorman JS, Todd JA, McDevitt HO, Trucco M. Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: a family study. Proc Natl Acad Sci USA 1988; 85(21):8111-8115.
(57) Khalil I, D'Auriol L, Gobet M, Morin L, Lepage V, Deschamps I et al. A combination of HLA-DQb Asp57-negative and HLA DQa Arg52 confers susceptibility to insulin-dependent diabetes mellitus. J Clin Invest 1990; 85:1315-1319.
(58) Khalil I, Deschamps I, Lepage V, Al-Daccak R, Degos L, Hors J. Dose effect of cis- and trans-encoded HLA-DQ alpha beta heterodimers in IDDM susceptibility. diab 1992; 41:378-384.
(59) Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL et al. "Extended" A1, B8, DR3 Haplotype Shows Remarkable Linkage Disequilibrium but Is Similar to Nonextended Haplotypes in Terms of Diabetes Risk. diab 2005; 54(6):1879-1883.
(60) Bellgrau D, Pugliese A. NOD mouse and BB rat: genetics and immunologic function. In: Eisenbarth GS, Lafferty KJ, editors. Type I Diabetes: Molecular, Cellular, and Clinical Immunology. New York, New York: Oxford University Press, 1996: 53-75.
(61) Kwok WW, Domeier ME, Johnson ML, Nepom GT, Koelle DM. HLA-DQB1 codon 57 is critical for peptide binding and recognition. J Exp Med 1996; 183(3):1253-1258.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8642268
(62) Sanjeevi CB, DeWeese C, Landin-Olsson M, Kockum I, Dahlquist G, Lernmark Å et al. Analysis of critical residues of HLA-DQ6 molecules in insulin-dependent diabetes mellitus. Tissue Antigens 1997; 50(1):61-65.
(63) Hoover ML, Marta RT. Molecular Modelling of HLA-DQ suggests a mechanism of resistance in type I diabetes. Scand J Immunol 1997; 45:193-202.
(64) Awata T, Kuzuya T, Matsuda A, Iwamoto Y, Kanazawa Y, Okuyama M et al. High frequency of aspartic acid at position 57 of HLA-DQ B-chain in Japanese IDDM patients and nondiabetic subjects. diab 1990; 39(2):266-269.
(65) Erlich HA, Griffith RL, Bugawan TL, Ziegler R, Alper C, Eisenbarth GS. Implication of specific DQB1 alleles in genetic susceptibility and resistance by identification of IDDM siblings with novel HLA-DQB1 allele and unusual DR2 and DR1 haplotypes. diab 1991; 40(4):478-481.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2010048
(66) Zeliszewski D, Tiercy J, Boitard C, Gu XF, Loche M, Krishnamoorthy R et al. Extensive study of DR b,DQ a, and DQ b gene polymorphism in 23 DR2-positive, insulin-dependent diabetes mellitus patients. Hum Immunol 1992; 33(2):140-147.
(67) Pugliese A, Zeller M, Yu L, Solimena M, Ricordi C. Sequence analysis of the DQB1*0602 allele in rare patients with type 1 diabetes. Diabetes 47 (Suppl 1), A198. 1998.
Ref Type: Abstract
(68) Pugliese A, Gianani R, Moromisato R, Awdeh ZL, Alper CA, Erlich HA et al. HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first-degree relatives of patients with IDDM. diab 1995; 44(6):608-613.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=7789622
(69) Wen L, Wong FS, Tang J, Chen NY, Altieri M, David C et al. In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes. J Exp Med 2000; 191(1):97-104.
(70) Carrasco-Marin E, Shimizu J, Kanagawa O, Unanue ER. The class II MHC I-Ag7 molecules from non-obese diabetic mice are poor peptide binders. J Immunol 1996; 156:450-458.
(71) Raju R, Munn SR, David CS. T cell recognition of human pre-proinsulin peptides depends on the polymorphism at HLA DQ locus:  A study using HLA DQ8 and DQ6 transgenic mice. Hum Immunol 1997; 58:21-29.
(72) Ettinger RA, Kwok WW. A peptide binding motif for HLA-DQA1*0102/DQB1*0602, the class II MHC molecule associated with dominant protection in insulin-dependent diabetes mellitus. J Immunol 1998; 160(5):2365-2373.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9498778
(73) Geluk A, van Meijgaarden KE, Schloot NC, Drijfhout JW, Ottenhoff TH, Roep BO. HLA-DR binding analysis of peptides from islet antigens in IDDM. diab 1998; 47(10):1594-1601.
(74) Nishimoto H, Kikutani H, Yamamura K, Kishimoto T. Prevention of autoimmune insulitis by expression of I-E molecules in NOD mice. Nature 1987; 328(6129):432-434.
(75) Koeleman BP, Lie BA, Undlien DE, Dudbridge F, Thorsby E, de Vries RR et al. Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Genes Immun 2004; 5(5):381-388.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15164102
(76) Moustakas AK, Papadopoulos GK. Molecular properties of HLA-DQ alleles conferring susceptibility to or protection from insulin-dependent diabetes mellitus: keys to the fate of islet beta-cells. Am J Med Genet 2002; 115(1):37-47.
(77) Lee KH, Wucherpfennig KW, Wiley DC. Structure of a human insulin peptide/HLA-DQ8 complex and susceptibility to type 1 diabetes. Nature Immunology 2001; 2:501-507.
(78) Suri A, Vidavsky I, van der DK, Kanagawa O, Gross ML, Unanue ER. In APCs, the autologous peptides selected by the diabetogenic I-Ag7 molecule are unique and determined by the amino acid changes in the P9 pocket. J Immunol 2002; 168:1235-1243.
(79) Suri A, Walters JJ, Gross ML, Unanue ER. Natural peptides selected by diabetogenic DQ8 and murine I-A(g7) molecules show common sequence specificity. J Clin Invest 2005; 115(8):2268-2276.
(80) Pugliese A. Genetic Protection from insulin-dependent diabetes mellitus. Diabetes Nutrition and Metabolism 1997; 10:169-179.
(81) Baisch JM, Weeks T, Giles R, Hoover M, Stastny P, Capra JD. Analysis of HLA-DQ genotypes and susceptibility in insulin- dependent diabetes mellitus. N Engl J Med 1990; 322(26):1836-1841.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2348836
(82) Ronningen KS, Spurkland A, Iwe T, Vartdal F, Thorsby E. Distribution of HLA-DRB1, -DQA1 and -DQB1 alleles and DQA1-DQB1 genotypes among Norwegian patients with insulin-dependent diabetes mellitus. Tissue Antigens 1991; 37:105-111.
(83) Pugliese A, Zeller M, Fernandez A, Zalcberg LJ, Bartlett RJ, Ricordi C et al. The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type I diabetes. Nat Genet 1997; 15(3):293-297.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9054945
(84) Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG et al. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 1997; 15:289-292.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9054944
(85) Rabinovitch A. An update on cytokines in the pathogenesis of insulin-dependent diabetes mellitus. Diabetes Metab Rev 1998; 14(2):129-151.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9679667
(86) Pugliese A, Kawasaki E, Zeller M, Yu L, Babu S, Solimena M et al. Sequence analysis of the diabetes-protective human leukocyte antigen-DQB1*0602 allele in unaffected, islet cell antibody-positive first degree relatives and in rare patients with type 1 diabetes. J Clin Endocrinol Metab 1999; 84(5):1722-1728.
(87) Penny MA, Jenkins D, Mijovic CH, Jacobs KH, Cavan DA, Yeung VT et al. Susceptibility to IDDM in a Chinese population. Role of HLA class II alleles. diab 1992; 41:914-919.
(88) Ikegami H, Kawaguchi Y, Yamato E, Kuwata S, Tokunaga K, Noma Y et al. Analysis by the polymerase chain reaction of histocompatibility leucocyte antigen-DR9-linked susceptibility to insulin-dependent diabetes mellitus. J Clin Endocrinol Metab 1992; 75(5):1381-1385.
(89) Sanjeevi CB, Zeidler A, Shaw S, Rotter J, Nepom GT, Costin G et al. Analysis of HLA-DQA1 and -DQB1 genes in Mexican Americans with insulin-dependent diabetes mellitus. Tissue Antigens 1993; 42:72-77.
(90) Kockum I, Lernmark A, Dahlquist G, Falorni A, Hagopian WA, Landin-Olsson M et al. Genetic and immunological findings in patients with newly diagnosed insulin-dependent diabetes mellitus. The Swedish Childhood Diabetes Study Group and The Diabetes Incidence in Sweden Study (DISS) Group. Horm Metab Res 1996; 28(7):344-347.
(91) Harbo HF, Lie BA, Sawcer S, Celius EG, Dai KZ, Oturai A et al. Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis. Tissue Antigens 2004; 63:237-247.
(92) Slattery RM, Kjer-Nielsen L, Allison J, Charlton B, Mandel TE, Miller JFAP. Prevention of diabetes in non-obese diabetic I-Ak transgenic mice. Nature 1990; 345(6277):724-726.
(93) Schmidt D, Verdaguer J, Averill N, Santamaria P. A mechanism for the major histocompatibility complex-linked resistance to autoimmunity. J Exp Med 1997; 186:1059-1075.
http://www.ncbi.nlm.nih.gov/pubmed/9314555?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(94) Gianani R, Verge CF, Moromisato-Gianani RI, Yu L, Zhang YJ, Pugliese A et al. Limited loss of tolerance to islet autoantigens in ICA+ first degree relatives of patients with type I diabetes expressing the HLA DQB1*0602 allele. J Autoimmun 1996; 9(3):423-425.
(95) Tuomi T, Björses P, Falorni A, Partanen J, Perheentupa J, Lernmark Å et al. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 1996; 81:1488-1494.
(96) Greenbaum CJ, Cuthbertson D, Eisenbarth GS, Schatz DA, Zeidler A, Krischer JP. Islet cell antibody positive relatives with HLA-DQA1*0102, DQB1*0602: Identification by the Diabetes Prevention Trial-1. J Clin Endocrinol Metab 2000; 85(3):1255-1260.
(97) Redondo MJ, Kawasaki E, Mulgrew CL, Noble JA, Erlich HA, Freed BM et al. DR and DQ associated protection from type 1 diabetes: comparison of DRB1*1401 and DQA1*0102-DQB1*0602. J Clin Endocrinol Metab 2000; 85(10):3793-3797.
(98) Caillat-Zucman S, Djilali-Saiah I, Timsit J, Bonifacio E, Sepe V, Shattack M et al. Insulin dependent diabetes mellitus (IDDM) joint report. 12th International Histocompatibility Workshop Study. In: Charron D, editor. Genetic diversity of HLA. Functional and medical implications. Paris: EDK, 1997: 389-398.
(99) Erlich HA, Bugawan TL, Scharf S, Nepom GT, Tait B, Griffith RL. HLA-DQb sequence polymorphism and genetic susceptibility to IDDM. diab 1990; 39:96-103.
(100) Nepom GT, Erlich H. MHC class-II molecules and autoimmunity. Ann Rev Immunol 1991; 9:493-525.
http://www.ncbi.nlm.nih.gov/pubmed/1910687?ordinalpos=53&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(101) Tait BD, Drummond BP, Varney MD, Harrison LC. HLA-DRB1*0401 is associated with susceptibility to insulin-dependent diabetes mellitus independently of the DQB1 locus. Eur J Immunogenet 1995; 22(4):289-297.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7495781
(102) Cucca F, Muntoni F, Lampis R, Frau F, Argiolas L, Silvetti M et al. Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum Immunol 1993; 37(2):85-94.
(103) Yasunaga S, Kimura A, Hamaguchi K, Ronningen KS, Sasazuki T. Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulin-dependent diabetes mellitus (IDDM). Tissue Antigens 1996; 47(1):37-48.
(104) Sanjeevi CB, Hook P, Landin-Olsson M, Kockum I, Dahlquist G, Lybrand et al. DR4 subtypes and their molecular properties in a population- based study of Swedish childhood diabetes. Tissue Antigens 1996; 47(4):275-283.
(105) Undlien DE, Friede T, Rammensee HG, Joner G, Dahl-Jorgensen K, Sovik O et al. HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection. diab 1997; 46(1):143-149.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8971095
(106) Valdes AM, Noble JA, Genin E, Clerget-Darpoux F, Erlich HA, Thomson G. Modeling of HLA class II susceptibility to Type I diabetes reveals an effect associated with DPB1. Genet Epidemiol 2001; 21(3):212-223.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11668578
(107) Tait BD, Harrison LC, Drummond BP, Stewart V, Varney MD, Honeyman MC. HLA antigens and age at diagnosis of insulin-dependent diabetes mellitus. Hum Immunol 1995; 42:116-122.
(108) Cruz TD, Valdes AM, Santiago A, Frazer dL, Raffel LJ, Ziedler A et al. DPB1 alleles are associated with type 1 diabetes susceptibility in multiple ethnic groups. diab 2004; 53(8):2158-2163.
(109) Erlich HA, Rotter JI, Chang JD, Shaw SJ, Raffel LJ, Klitz W et al. Association of HLA-DPB1*0301 with IDDM in Mexican-Americans. diab 1996; 45:610-614.
(110) Noble JA, Valdes AM, Thomson G, Erlich HA. The HLA class II locus DPB1 can influence susceptibility to type 1 diabetes. diab 2000; 49(1):121-125.
(111) Nejentsev S, Reijonen H, Adojaan B, Kovalchuk L, Sochnevs A, Schwartz EI et al. The effect of HLA-B allele on the IDDM risk defined by DRB1*04 subtypes and DQB1*0302. diab 1997; 46(11):1888-1892.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9356041
(112) Caillat-Zucman S, Bertin E, Timsit J, Boitard C, Assan R, Bach JF. Protection from insulin-dependent diabetes mellitus is linked to a peptide transporter gene. Eur J Immunol 1993; 23:1784-1788.
(113) Moghaddam PH, de Knijf P, Roep BO, Van der Auwera B, Naipal A, Gorus F et al. Genetic structure of IDDM1: Two separate regions in the major histocompatibility complex contribute to susceptibility or protection. diab 1998; 47:263-269.
(114) Obayashi H, Nakamura N, Fukui M, Tegoshi H, Fujii M, Ogata M et al. Influence of TNF microsatellite polymorphisms (TNFa) on age-at-onset of insulin-dependent diabetes mellitus. Hum Immunol 1999; 60(10):974-978.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10566598
(115) Faustman D, Xiangping L, Lin H, Fu Y, Eisenbarth GS, Avruch J et al. Abnormal MHC class I presentation linked to autoimmunity. Diabetes 41, supplement 1, 99A. 1992.
Ref Type: Abstract
(116) Gaskins HR, Monaco JJ, Leiter EH. Expression of intra-MHC transporter (Ham) genes and class I antigens in diabetes-susceptible NOD mice. Science 1992; 256:1826-1828.
(117) Yan G, Shi L, Faustman D. Novel splicing of the human MHC-encoded peptide transporter confers unique properties. J Immunol 1999; 162(2):852-859.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9916708
(118) Fu Y, Yan G, Shi L, Faustman D. Antigen processing and autoimmunity. Evaluation of mRNA abundance and function of HLA-linked genes. Ann N Y Acad Sci 1998; 842:138-155.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9599304
(119) Yan G, Shi L, Fu Y, Wang X, Schoenfeld D, Ma L et al. Screening of the TAP1 gene by denaturing gradient gel electrophoresis in insulin-dependent diabetes mellitus: detection and comparison of new polymorphisms between patients and controls. Tissue Antigens 1997; 50(6):576-585.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9458110
(120) Robinson WP, Barbosa J, Rich SS, Thomson G. Homozygous parent affected sib pair method for detecting disease predisposing variants: application to insulin-dependent diabetes mellitus. Genet Epidemiol 1993; 10(5):273-288.
(121) Chuang LM, Jou TS, Wu HP, Tai TY, Lin BJ. A rapid method to study heat shock protein 70-2 gene polymorphism in insulin-dependent diabetes mellitus. Pancreas 1996; 13(3):268-272.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8884848
(122) Karjalainen J, Salmela P, Ilonen J, Surcel H-M, Knip M. A comparison of childhood and adult type 1 diabetes mellitus. New Engl J Med 1989; 320:881-886.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2648146
(123) Caillat-Zucman S, Garchon H-J, Timsit J, Assan R, Boitard C, Dijilah-Saiah I et al. Age-dependent HLA genetic heterogeneity of type 1 insulin- dependent diabetes mellitus. J Clin Invest 1992; 90:2242-2250.
(124) Valdes AM, Thomson G, Erlich HA, Noble JA. Association between type 1 diabetes age of onset and HLA among sibling pairs. diab 1999; 48(8):1658-1661.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10426387
(125) Gyllensten UB, Erlich HA. Ancient roots for polymorphism at the HLA-DQ alpha locus in primates. Proc Natl Acad Sci USA 1989; 86:9986-9990.
(126) Erlich HA, Gyllensten UB. The evolution of allelic diversity at the primate major histocompatibility complex class II loci. Hum Immunol 1991; 30:110-118.
(127) Honeyman MC, Harrison LC, Drummond B, Colman PG, Tait BD. Analysis of families at risk for insulin-dependent diabetes mellitus reveals that HLA antigens influence progression to clinical disease. Mol Med 1995; 1(5):576-582.
(128) Noble JA, Valdes AM, Bugawan TL, Apple RJ, Thomson G, Erlich HA. The HLA class I A locus affects susceptibility to type 1 diabetes. Hum Immunol 2002; 63(8):657-664.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12121673
(129) Valdes AM, Erlich HA, Noble JA. Human leukocyte antigen class I B and C loci contribute to Type 1 Diabetes (T1D) susceptibility and age at T1D onset. Hum Immunol 2005; 66(3):301-313.
(130) Hammond-Kosack MC, Dobrinski B, Lurz R, Docherty K, Kilpatrick MW. The human insulin gene linked polymorphic region exhibits an altered DNA structure. Nucleic Acids Res 1992; 20(2):231-236.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1741248
(131) Koeleman BV, De Groot KN, van der Slik AR, Roep BO, Giphart MJ. Association between D6S2223 and type 1 diabetes independent of HLA class II in Dutch famlies. diabetol 2002; 45:598-599.
(132) Valdes AM, Wapelhorst B, Concannon P, Erlich HA, Thomson G, Noble JA. Extended DR3-D6S273-HLA-B haplotypes are associated with increased susceptibility to type 1 diabetes in US Caucasians. Tissue Antigens 2005; 65(1):115-119.
(133) Gambelunghe G, Ghaderi M, Cosentino A, Falorni Ad, Brunetti P, Falorni Al et al. Association of MHC Class I chain-related A (MIC-A) gene polymorphism with Type 1 diabetes. diabetol 2000; 43(4 (2000)):507-514.
(134) Bilbao JR, Martin-Pagola A, Calvo B, Perez dN, Gepv N, Castano L. Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques. Ann N Y Acad Sci 2002; 958:321-324.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12021133
(135) Gupta M, Nikitina-Zake L, Zarghami M, Landin-Olsson M, Kockum I, Lernmark A et al. Association between the transmembrane region polymorphism of MHC class I chain related gene-A and type 1 diabetes mellitus in Sweden. Hum Immunol 2003; 64(5):553-561.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12691706
(136) Gambelunghe G, Falorni A, Ghaderi M, Laureti S, Tortoioli C, Santeusanio F et al. Microsatellite Polymorphism of the MHC Class I Chain-related (MIC-A and MIC-B) Genes Marks the Risk for Autoimmune Addison's Disease. J Clin Endocrinol Metab 1999; 84:3701-3707.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10523017
(137) Park YS, Sanjeevi CB, Robles D, Yu L, Rewers M, Gottlieb PA et al. Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease. Tissue Antigens 2002; 60(2):155-163.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12392510
(138) Sanjeevi CB, Kanungo A, Berzina L, Shtauvere-Brameus A, Ghaderi M, Samal KC. MHC class I chain-related gene a alleles distinguish malnutrition-modulated diabetes, insulin-dependent diabetes, and non-insulin-dependent diabetes mellitus patients from eastern India. Ann N Y Acad Sci 2002; 958:341-344.
(139) Tica V, Nikitina-Zake L, Donadi E, Sanjeevi CB. MIC-A genotypes 4/5.1 and 9/9 are positively associated with type 1 diabetes mellitus in Brazilian population. Ann N Y Acad Sci 2003; 1005:310-313.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14679081
(140) Novota P, Kolostova K, Pinterova D, Novak J, Weber P, Treslova L et al. Association of MHC class I chain related gene-A microsatellite polymorphism with the susceptibility to T1DM and LADA in Czech adult patients. Int J Immunogenet 2005; 32:273-275.
(141) Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL et al. Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives. J Clin Immunol 2005; 25(4):303-308.
(142) Caplen NJ, Patel A, Millward A, Campbell RD, Ratanachaiyavong S, Wong FS et al. Complement C4 and heat shock protein 70 (HSP70) genotypes and type I diabetes mellitus. Immunogenetics 1990; 32(6):427-430.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2272664
(143) Pugliese A, Awdeh Z, Galluzzo A, Yunis EJ, Alper CA, Eisenbarth GS. No independent association between HSP70 gene polymorphism and IDDM. diab 1992; 41(7):788-791.
(144) Cascino I, D'Alfonso S, Cappello N, Giordano M, Pugliese A, Awdeh Z et al. Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. Tissue Antigens 1993; 42(2):62-66.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7903489
(145) Pociot F, Ronningen KS, Nerup J. Polymorphic analysis of the human MHC-linked heat shock protein 70 (HSP70-2) and HSP70-Hom genes in insulin-dependent diabetes mellitus (IDDM). Scand J Immunol 1993; 38(5):491-495.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7901896
(146) Kawaguchi Y, Ikegami H, Fukuda M, Fujioka Y, Shima K, Ogihara T. Polymorphism of HSP70 gene is not associated with type 1 (insulin-dependent) diabetes mellitus in Japanese. Diabetes Res Clin Pract 1993; 21(2-3):103-107.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7903628
(147) Mijovic CH, Penny MA, Jenkins D, Jacobs K, Heward J, Knight SW et al. The insulin gene region and susceptibility to insulin-dependent diabetes mellitus in four races; new insights from Afro-Caribbean race-specific haplotypes. Autoimmunity 1997; 26(1):11-22.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9556351
(148) Pugliese A, Awdeh ZL, Alper CA, Jackson RA, Eisenbarth GS. The paternally inherited insulin gene B allele (1,428 FokI site) confers protection from insulin-dependent diabetes in families. J Autoimmun 1994; 7(5):687-694.
(149) Bennett ST, Barnett AH, Bain SC, Todd JA. Dissecting IDDM-2-VNTR-encoded predisposition to type I diabetes. Autoimmunity 1995; 21:16.
(150) Barker JM, Goehrig SH, Barriga K, Hoffman M, Slover R, Eisenbarth GS et al. Clinical characteristics of children diagnosed with type 1 diabetes through intensive screening and follow-up. Diab care 2004; 27(6):1399-1404.
(151) Pugliese A, Bugawan T, Moromisato R, Awdeh ZL, Alper CA, Jackson RA et al. Two subsets of HLA-DQA1 alleles mark phenotypic variation in levels of insulin autoantibodies in first degree relatives at risk for insulin-dependent diabetes. J Clin Invest 1994; 93:2447-2452.
(152) Raum D, Awdeh Z, Yunis EJ, Alper CA, Gabbay KH. Extended major histocompatibility complex haplotypes in type I diabetes mellitus. J Clin Invest 1984; 74(2):449-454.
(153) Dawkins RL, Christiansen FT, Kay PH, Garlepp M, McCluskey J, Hollingsworth PN et al. Disease associations with complotypes, supratypes and haplotypes. Immunol Rev 1983; 70:1-22.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=6832798
(154) Aly TA, Eller E, Ide A, Gowan K, Babu SR, Erlich HA et al. Multi-SNP Analysis of MHC Region: Remarkable Conservation of HLA-A1-B8-DR3 Haplotype. Diabetes 2006; 55(5):1265-1269.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16644681&query_hl=11&itool=pubmed_docsum(155) Smith WP, Vu Q, Li SS, Hansen JA, Zhao LP, Geraghty DE. Toward understanding MHC disease associations: Partial resequencing of 46 distinct HLA haplotypes. Genomics 2006; 87(5):561-571.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16434165
(156) Perez dN, Bilbao JR, Calvo B, Castano L. Analysis of chromosome 6q in Basque families with type 1 diabetes. GEPV-N. Basque-Navarre Endocrinology and Paediatric Group. Autoimmunity 2000; 33(1):33-36.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11204251
(157) Palmer JP, Asplin CM, Clemons P, Lyen K, Tatpati O, Raghu PK et al. Insulin antibodies in insulin-dependent diabetics before insulin treatment. Science 1983; 222(4630):1337-1339.
(158) Vardi P, Ziegler AG, Matthews JH, Dib S, Keller RJ, Ricker AT et al. Concentration of insulin autoantibodies at onset of type I diabetes. Inverse log-linear correlation with age. Diab care 1988; 11(9):736-739.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=3066606
(159) Carroll GJ, Will RK, Peter JB, Garlepp MJ, Dawkins RL. Penicillamine induced polymyositis and dermatomyositis. J Rheumatol 1987; 14(5):995-1001.
(160) Yu L, Robles DT, Abiru N, Kaur P, Rewers M, Kelemen K et al. Early expression of antiinsulin autoantibodies of humans and the NOD mouse: evidence for early determination of subsequent diabetes. Proc Natl Acad Sci USA 2000; 97(4):1701-1706.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10677521
(161) Tree TIM, Peakman M. Autoreactive T cells in human type 1 diabetes. Endocrinology and Metabolism Clinics of North America 2004; 33(1):113-+.
ISI:000220962200009
(162) Rudy G, Stone N, Harrison LC, Colman PG, McNair P, Brusic V et al. Similar peptides from two b cell autoantigens, proinsulin and glutamic acid decarboxylase, stimulate T cells of individuals at risk for insulin-dependent diabetes. Mol Med 1995; 1(6):625-633.
(163) Durinovic-Bello I, I, Boehm BO, Ziegler AG. Predominantly Recognized ProInsulin T Helper Cell Epitopes in Individuals With and Without Islet Cell Autoimmunity. J Autoimmun 2002; 18(1):55-66.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11869047
(164) Narendran P, Williams AJ, Elsegood K, Leech NJ, Dayan CM. Humoral and cellular immune responses to proinsulin in adults with newly diagnosed type 1 diabetes. Diabetes-Metabolism Research and Reviews 2003; 19(1):52-59.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=12592644&ordinalpos=12&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(165) Alleva DG, Crowe PD, Jin L, Kwok WW, Ling N, Gottschalk M et al. A disease-associated cellular immune response in type 1 diabetics to an immunodominant epitope of insulin. J Clin Invest 2001; 107(2):173-180.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11160133
(166) Kent SC, Chen Y, Bregoli L, Clemmings SM, Kenyon NS, Ricordi C et al. Expanded T cells from pancreatic lymph nodes of type 1 diabetic subjects recognize an insulin epitope. Nature 2005; 435(7039):224-228.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15889096&query_hl=49&itool=pubmed_docsum(167) Achenbach P, Koczwara K, Knopff A, Naserke H, Ziegler AG, Bonifacio E. Mature high-affinity immune responses to (pro)insulin anticipate the autoimmune cascade that leads to type 1 diabetes. J Clin Invest 2004; 114(4):589-597.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15314696
(168) Toma A, Haddouk S, Briand JP, Camoin L, Gahery H, Connan F et al. Recognition of a subregion of human proinsulin by class I-restricted T cells in type 1 diabetic patients. Proc Natl Acad Sci U S A 2005; 102(30):10581-10586.
(169) Mannering SI, Harrison LC, Williamson NA, Morris JS, Thearle DJ, Jensen KP et al. The insulin A-chain epitope recognized by human T cells is posttranslationally modified. J Exp Med 2005; 202(9):1191-1197.
(170) Wegmann DR, Norbury-Glaser M, Daniel D. Insulin-specific T cells are a predominant component of islet infiltrates in pre-diabetic NOD mice. Eur J Immunol 1994; 24(8):1853-1857.
(171) Haskins K, Wegmann D. Diabetogenic T-cell clones. diab 1996; 45:1299-1305.
(172) Wong FS, Karttunen J, Dumont C, Wen L, Visintin I, Pilip IM et al. Identification of an MHC class I-restricted autoantigen in type 1 diabetes by screening an organ-specific cDNA library. Nat Med 1999; 5(9):1026-1031.
http://www.ncbi.nlm.nih.gov/pubmed/10470079?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(173) Faideau B, Briand JP, Lotton C, Tardivel I, Halbout P, Jami J et al. Expression of preproinsulin-2 gene shapes the immune response to preproinsulin in normal mice. J Immunol 2004; 172(1):25-33.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14688305
(174) Moriyama H, Abiru N, Paronen J, Sikora K, Liu E, Miao D et al. Evidence for a primary islet autoantigen (preproinsulin 1) for insulitis and diabetes in the nonobese diabetic mouse. Proc Natl Acad Sci U S A 2003; 100(18):10376-10381.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=Abstract&list_uids=12925730
(175) Nakayama M, Abiru N, Moriyama H, Babaya N, Liu E, Miao D et al. Prime role for an insulin epitope in the development of type 1 diabetes in NOD mice. Nature 2005; 435(7039):220-223.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15889095
(176) Nakayama M, Beilke JN, Jasinski JM, Kobayashi M, Miao D, Li M et al. Priming and effector dependence on insulin B:9-23 peptide in NOD islet autoimmunity. J Clin Invest 2007; 117(7):1835-1843.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17607359&ordinalpos=20&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(177) Du W, Wong FS, Li MO, Peng J, Qi H, Flavell RA et al. TGF-beta signaling is required for the function of insulin-reactive T regulatory cells. J Clin Invest 2006; 116(5):1360-1370.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16670772
(178) Jasinski JM, Yu L, Nakayama M, Li MM, Lipes MA, Eisenbarth GS et al. Transgenic insulin (B:9-23) T-cell receptor mice develop autoimmune diabetes dependent upon RAG genotype, H-2g7 homozygosity, and insulin 2 gene knockout. Diabetes 2006; 55(7):1978-1984.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16804066&query_hl=9&itool=pubmed_docsum(179) Cox NJ, Wapelhorst B, Morrison VA, Johnson L, Pinchuk L, Spielman RS et al. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 2001; 69(4):820-830.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11507694
(180) Cox NJ, Bell GI, Xiang KS. Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II. Am J Hum Genet 1988; 43(4):495-501.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2902788
(181) Langholz B, Tuomilehto-Wolf E, Thomas D, Pitkaniemi J, Tuomilehto J. Variation in HLA-associated risks of childhood insulin-dependent diabetes in the Finnish population: I. Allele effects at A, B, and DR loci. DiMe Study Group. Childhood Diabetes in Finland. Genet Epidemiol 1995; 12(5):441-453.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8557177
(182) Vafiadis P, Bennett ST, Colle E, Grabs R, Goodyer CG, Polychronakos C. Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leukocytes. J Autoimmun 1996; 9:397-403.
(183) Stead JD, Buard J, Todd JA, Jeffreys AJ. Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Hum Mol Genet 2000; 9(20):2929-2935.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11115836
(184) Stead JD, Jeffreys AJ. Allele diversity and germline mutation at the insulin minisatellite. Hum Mol Genet 2000; 9:713-723.
(185) Bell GI, Selby MJ, Rutter WJ. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature 1982; 295(5844):31-35.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7035959
(186) Kennedy GC, German MS, Rutter WJ. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 1995; 9(3):293-298.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7773292
(187) Lucassen AM, Screaton GR, Julier C, Elliott TJ, Lathrop M, Bell JI. Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum Mol Genet 1995; 4(4):501-506.
(188) Jolicoeur C, Hanahan D, Smith KM. T-cell tolerance toward a transgenic b-cell antigen and transcription of endogenous pancreatic genes in thymus. Proc Natl Acad Sci USA 1994; 91(14):6707-6711.
(189) Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D et al. Remapping the Insulin Gene/IDDM2 Locus in Type 1 Diabetes. diab 2004; 53(7):1884-1889.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15220214
(190) Owerbach D, Aagaard L. Analysis of a 1963-bp polymorphic region flanking the human insulin gene. Gene 1984; 32(3):475-479.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=6397408
(191) Rotwein P, Yokoyama S, Didier DK, Chirgwin JM. Genetic analysis of the hypervariable region flanking the human insulin gene. Am J Hum Genet 1986; 39(3):291-299.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2876625
(192) Hammond-Kosack MC, Docherty K. A consensus repeat sequence from the human insulin gene linked polymorphic region adopts multiple quadriplex DNA structures in vitro. FEBS Lett 1992; 301(1):79-82.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1451791
(193) Pugliese A, Brown D, Garza D, Zeller M, Redondo MJ, Eisenbarth GS et al. Self-Antigen Presenting Cells Expressing Islet Cell Molecules in Human Thymus and Peripheral Lymphoid Organs: Phenotypic Characterization and Implications for Immunological Tolerance and Type 1 Diabetes. J Clin Invest 2001; 107(5):555-564.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11238556
(194) Sospedra M, Ferrer-Francesch X, Dominguez O, Juan M, Foz-Sala M, Pujol-Borrell R. Transcription of a broad range of self-antigens in human thymus suggests a role for central mechanisms in tolerance toward peripheral antigens. J Immunol 1998; 161(11):5918-5929.
(195) Bennett ST, Todd JA. Human type 1 diabetes and the insulin gene: principles of mapping polygenes. Annu Rev Genet 1996; 30:343-370.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8982458
(196) Metcalfe KA, Hitman GA, Rowe RE, Hawa M, Huang X, Stewart T et al. Concordance for type 1 diabetes in identical twins is affected by insulin genotype. Diab care 2001; 24(5):838-842.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11347740
(197) Walter M, Albert E, Conrad M, Keller E, Hummel M, Ferber K et al. IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity. diabetol 2003; 46(5):712-720.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12750767
(198) Halminen M, Veijola R, Reijonen H, Ilonen J, Akerblom HK, Knip M. Effect of polymorphism in the insulin gene region on IDDM susceptibility and insulin secretion. The Childhood Diabetes in Finland (DiMe) Study Group. Eur J Clin Invest 1996; 26(10):847-852.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8911856
(199) Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlien DE, Pritchard LE et al. Susceptibility to human type I diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 1995; 9:284-292.
(200) Bennett ST, Wilson AJ, Cucca F, Nerup J, Pociot F, McKinney PA et al. IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. J Autoimmun 1996; 9:415-421.
(201) Lew A, Rutter WJ, Kennedy GC. Unusual DNA structure of the diabetes susceptibility locus IDDM2 and its effect on transcription by the insulin promoter factor Pur-1/MAZ. Proc Natl Acad Sci U S A 2000; 97(23):12508-12512.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11070077
(202) Owerbach D, Gabbay KH. The search for IDDM susceptibility genes: the next generation. [Review]. diab 1996; 45(5):544-551.
(203) Sprent J, Webb SR. Intrathymic and extrathymic clonal deletion of T cells. Curr Opin Immunol 1995; 7(2):196-205.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7546379
(204) Liblau RS, Tisch R, Shokat K, Yang X, Dumont N, Goodnow CC et al. Intravenous injection of soluble antigen induces thymic and peripheral T-cells apoptosis. Proc Natl Acad Sci U S A 1996; 93(7):3031-3036.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8610163
(205) Heath VL, Moore NC, Parnell SM, Mason DW. Intrathymic expression of genes involved in organ specific autoimmune disease. J Autoimmun 1998; 11(4):309-318.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9776708
(206) Werdelin O, Cordes U, Jensen T. Aberrant expression of tissue-specific proteins in the thymus: A hypothesis for the development of central tolerance. Scand J Immunol 1998; 47:95-100.
(207) Pugliese A. Central and peripheral autoantigen presentation in immune tolerance. Immunology 2004; 111:138-146.
(208) Smith KM, Olson DC, Hirose R, Hanahan D. Pancreatic gene expression in rare cells of thymic medulla: evidence for functional contribution to T cell tolerance. Int Immunol 1997; 9(9):1355-1365.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9310839
(209) Hanahan D. Peripheral-antigen-expressing cells in thymic medulla: factors in self- tolerance and autoimmunity. Curr Opin Immunol 1998; 10(6):656-662.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9914224
(210) Throsby M, Homo-Delarche F, Chevenne D, Goya R, Dardenne M, Pleau JM. Pancreatic hormone expression in the murine thymus: localization in dendritic cells and macrophages. Endocrinology 1998; 139(5):2399-2406.
(211) Debinski J, Schulte A, Kyewski B, Klein L. Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2001; 2:1032-1039.
(212) Garcia CA, Prabakar KR, Diez J, Cao A, Allende G, Zeller M et al. Dendritic cells in human thymus and periphery display a proinsulin epitope in a transcription-dependent, capture-independent fashion. J Immunol 2005; 175:2111-2122.
(213) French MB, Allison J, Cram DS, Thomas HE, Dempsey-Collier M, Silva A et al. Transgenic expression of mouse proinsulin II prevents diabetes in nonobese diabetic mice. diab 1996; 46:34-39.
(214) Chentoufi AA, Polychronakos C. Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: the mechanism by which the IDDM2 locus may predispose to diabetes. diab 2002; 51(5):1383-1390.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11978634
(215) Krishnamurthy B, Dudek NL, McKenzie MD, Purcell AW, Brooks AG, Gellert S et al. Responses against islet antigens in NOD mice are prevented by tolerance to proinsulin but not IGRP. J Clin Invest 2006; 116(12):3258-3265.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17143333&query_hl=7&itool=pubmed_docsum(216) Christofori G, Naik P, Hanahan D. Deregulation of both imprinted and expressed alleles of the insulin-like growth factor 2 gene during b-cell tumorigenesis. Nat Genet 1995; 10:196-201.
(217) Hill DJ, Hogg J. Growth factor control of pancreatic B cell hyperplasia. Baillieres Clin Endocrinol Metab 1991; 5(4):689-698.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1755812
(218) Nyman T, Pekonen F. The expression of insulin-like growth factors and their binding proteins in normal human lymphocytes. Acta Endocrinol (Copenh) 1993; 128(2):168-172.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7680835
(219) Vafiadis P, Grabs R, Goodyer CG, Colle E, Polychronakos C. A functional analysis of the role of IGF2 in IDDM2-encoded susceptibility to type 1 diabetes. diab 1998; 47(5):831-836.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9588457
(220) Geenen V, Achour I, Robert F, Vandersmissen E, Sodoyez JC, Defresne MP et al. Evidence that insulin-like growth factor 2 (IGF2) is the dominant thymic peptide of the insulin superfamily. Thymus 1993; 21(2):115-127.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8337706
(221) Geenen V, Lefebvre PJ. The intrathymic expression of insulin-related genes: implications for pathophysiology and prevention of Type 1 diabetes. Diabetes Metab Rev 1998; 14(1):95-103.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9605632
(222) Geenen V, Martens H, Brilot F, Renard C, Franchimont D, Kecha O. Thymic neuroendocrine self-antigens. Role in T-cell development and central T-cell self-tolerance. Ann N Y Acad Sci 2000; 917:710-723.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11268399
(223) Kecha-Kamoun O, Achour I, Martens H, Collette J, Lefebvre PJ, Greiner DL et al. Thymic expression of insulin-related genes in an animal model of autoimmune type 1 diabetes. Diabetes Metab Res Rev 2001; 17(2):146-152.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11307180
(224) Whalen BJ, Marounek J, Weiser P, Appel MC, Greiner DL, Mordes JP et al. BB rat thymocytes cultured in the presence of islets lose their ability to transfer autoimmune diabetes. diab 2001; 50(5):972-979.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11334440
(225) Bieg S, Hanlon C, Hampe CS, Benjamin D, Mahoney CP. GAD65 and insulin B chain peptide (9-23) are not primary autoantigens in the type 1 diabetes syndrome of the BB rat. Autoimmunity 1999; 31(1):15-24.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10593565
(226) Mordes JP, Schirf B, Roipko D, Greiner DL, Weiner H, Nelson P et al. Oral insulin does not prevent insulin-dependent diabetes mellitus in BB rats. Ann N Y Acad Sci 1996; 778:418-421.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8611008
(227) Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37(12):1317-1319.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16273109
(228) Urrutia I, Calvo B, Bilbao JR, Castano L. Anomalous behaviour of the 5' insulin gene polymorphism allele 814: lack of association with Type I diabetes in Basques. GEPV-N Group. Basque-Navarre Endocrinology and Paediatrics. diabetol 1998; 41(9):1121-1123.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9754833
(229) Hollick JB, Dorweiler JE, Chandler VL. Paramutation and related allelic interactions. Trends Genet 1997; 13(8):302-308.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9260515
(230) Marron MP, Raffel LJ, Garchon HJ, Jacob CO, Serrano-Rios M, Martinez LM et al. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 1997; 6(8):1275-1282.
(231) Awata T, Kurihara S, Iitaka M, Takei S, Inoue I, Ishii C et al. Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population. diab 1998; 47(1):128-129.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9421386
(232) Hayashi H, Kusaka I, Nagasaka S, Kawakami A, Rokkaku K, Nakamura T et al. Association of CTLA-4 polymorphism with positive anti-GAD antibody in Japanese subjects with type 1 diabetes mellitus. Clin Endocrinol (Oxf) 1999; 51(6):793-799.
PM:10619986
(233) Yanagawa T, Maruyama T, Gomi K, Taniyama M, Kasuga A, Ozawa Y et al. Lack of association between CTLA-4 gene polymorphism and IDDM in Japanese subjects. Autoimmunity 1999; 29(1):53-56.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10052685
(234) Esposito L, Hill NJ, Pritchard LE, Cucca F, Muxworthy C, Merriman ME et al. Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group. diab 1998; 47(11):1797-1799.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9792551
(235) Klein L, Klugmann M, Nave KA, Tuohy VK, Kyewski B. Shaping of the autoreactive T-cell repertoire by a splice variant of self protein expressed in thymic epithelial cells. Nat Med 2000; 6:56-61.
(236) Badenhoop K, Donner H, Pani M, Rau H, Siegmund T, Braun J. Genetic susceptibility to type 1 diabetes: clinical and molecular heterogeneity of IDDM1 and IDDM12 in a german population. Exp Clin Endocrinol Diabetes 1999; 107 Suppl 3:S89-S92.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10522814
(237) Marron MP, Zeidler A, Raffel LJ, Eckenrode SE, Yang JJ, Hopkins DI et al. Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33. diab 2000; 49(3):492-499.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10868973
(238) Hill NJ, Lyons PA, Armitage N, Todd JA, Wicker LS, Peterson LB. NOD Idd5 locus controls insulitis and diabetes and overlaps the orthologous CTLA4/IDDM12 and NRAMP1 loci in humans [In Process Citation]. diab 2000; 49(10):1744-1747.
http://www.ncbi.nlm.nih.gov/pubmed/11016460?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(239) Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423(6939):506-511.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12724780
(240) Eggena MP, Walker LS, Nagabhushanam V, Barron L, Chodos A, Abbas AK. Cooperative roles of CTLA-4 and regulatory T cells in tolerance to an islet cell antigen. J Exp Med 2004; 199(12):1725-1730.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15210748
(241) Turpeinen H, Laine AP, Hermann R, Simell O, Veijola R, Knip M et al. A linkage analysis of the CTLA4 gene region in Finnish patients with type 1 diabetes. Eur J Immunogenet 2003; 30(4):289-293.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12919291
(242) Blomhoff A, Lie BA, Myhre AG, Kemp EH, Weetman AP, Akselsen HE et al. Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease. J Clin Endocrinol Metab 2004; 89(7):3474-3476.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15240634
(243) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(244) Howson JM, Dunger DB, Nutland S, Stevens H, Wicker LS, Todd JA. A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene. Diabetologia 2007; 50(4):741-746.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17334650&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(245) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(246) Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007; 39(9):1074-1082.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17676041&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(247) Smyth DJ, Cooper JD, Bailey R, Field S, Burren O, Smink LJ et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 2006; 38(6):617-619.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16699517
(248) Zipris D, Lien E, Nair A, Xie JX, Greiner DL, Mordes JP et al. TLR9-signaling pathways are involved in Kilham rat virus-induced autoimmune diabetes in the biobreeding diabetes-resistant rat. J Immunol 2007; 178(2):693-701.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=178%5Bvolume%5D%20AND%20693%5Bpage%5D%20AND%202007%5Bpdat%5D(249) Devendra D, Jasinski J, Melanitou E, Nakayama M, Li M, Hensley B et al. Interferon-(alpha) as a Mediator of Polyinosinic:Polycytidylic Acid-Induced Type 1 Diabetes. diab 2005; 54(9):2549-2556.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16123342
(250) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(251) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(252) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(253) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(254) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=447%5Bvolume%5D%20AND%20661%5Bpage%5D%20AND%202007%5Bpdat%5D(255) Junttila TT, Laato M, Vahlberg T, Soderstrom KO, Visakorpi T, Isola J et al. Identification of patients with transitional cell carcinoma of the bladder overexpressing ErbB2, ErbB3, or specific ErbB4 isoforms: real-time reverse transcription-PCR analysis in estimation of ErbB receptor status from cancer patients. Clin Cancer Res 2003; 9(14):5346-5357.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=9%5Bvolume%5D%20AND%205346%5Bpage%5D%20AND%202003%5Bpdat%5D(256) Holbro T, Beerli RR, Maurer F, Koziczak M, Barbas CF, III, Hynes NE. The ErbB2/ErbB3 heterodimer functions as an oncogenic unit: ErbB2 requires ErbB3 to drive breast tumor cell proliferation. Proc Natl Acad Sci U S A 2003; 100(15):8933-8938.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=100%5Bvolume%5D%20AND%208933%5Bpage%5D%20AND%202003%5Bpdat%5D(257) Vairaktaris E, Goutzanis L, Vassiliou S, Spyridonidou S, Nkenke E, Papageorgiou G et al. Enhancement of erbB2 and erbB3 expression during oral oncogenesis in diabetic rats. J Cancer Res Clin Oncol 2007.
PM:17704947
(258) Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K et al. A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 1997; 12(6):915-921.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=12%5Bvolume%5D%20AND%20915%5Bpage%5D%20AND%201997%5Bpdat%5D(259) Pani MA, Knapp M, Donner H, Braun J, Baur MP, Usadel KH et al. Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans. diab 2000; 49(3):504-507.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=10868975&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(260) Guja C, Marshall S, Welsh K, Merriman M, Smith A, Todd JA et al. The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population. J Cell Mol Med 2002; 6(1):75-81.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=12003670&ordinalpos=11&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(261) Turpeinen H, Hermann R, Vaara S, Laine AP, Simell O, Knip M et al. Vitamin D receptor polymorphisms: no association with type 1 diabetes in the Finnish population. Eur J Endocrinol 2003; 149(6):591-596.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=149%5Bvolume%5D%20AND%206%5Bissue%5D%20AND%20591%5Bpage%5D%20AND%202003%5Bpdat%5D(262) Nejentsev S, Cooper JD, Godfrey L, Howson JM, Rance H, Nutland S et al. Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes. diab 2004; 53(10):2709-2712.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=53%5Bvolume%5D%20AND%2010%5Bissue%5D%20AND%202709%5Bpage%5D%20AND%202004%5Bpdat%5D(263) Guo SW, Magnuson VL, Schiller JJ, Wang X, Wu Y, Ghosh S. Meta-analysis of vitamin D receptor polymorphisms and type 1 diabetes: a HuGE review of genetic association studies. Am J Epidemiol 2006; 164(8):711-724.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=164%5Bvolume%5D%20AND%208%5Bissue%5D%20AND%20711%5Bpage%5D%20AND%202006%5Bpdat%5D(264) Lopez ER, Zwermann O, Segni M, Meyer G, Reincke M, Seissler J et al. A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. Eur J Endocrinol 2004; 151(2):193-197.
(265) Bailey R, Cooper JD, Zeitels L, Smyth DJ, Yang JH, Walker NM et al. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Diabetes 2007; .
(266) Pozzilli P, Manfrini S, Crino A, Picardi A, Leomanni C, Cherubini V et al. Low levels of 25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 in patients with newly diagnosed type 1 diabetes. Horm Metab Res 2005; 37(11):680-683.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=37%5Bvolume%5D%20AND%2011%5Bissue%5D%20AND%20680%5Bpage%5D%20AND%202005%5Bpdat%5D(267) Littorin B, Blom P, Scholin A, Arnqvist HJ, Blohme G, Bolinder J et al. Lower levels of plasma 25-hydroxyvitamin D among young adults at diagnosis of autoimmune type 1 diabetes compared with control subjects: results from the nationwide Diabetes Incidence Study in Sweden (DISS). diabetol 2006; 49(12):2847-2852.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=49%5Bvolume%5D%20AND%2012%5Bissue%5D%20AND%202847%5Bpage%5D%20AND%202006%5Bpdat%5D(268) Vitamin D supplement in early childhood and risk for Type I (insulin-dependent) diabetes mellitus. The EURODIAB Substudy 2 Study Group. diabetol 1999; 42(1):51-54.
(269) Hypponen E, Laara E, Reunanen A, Jarvelin MR, Virtanen SM. Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. Lancet 2001; 358(9292):1500-1503.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=358%5Bvolume%5D%20AND%209292%5Bissue%5D%20AND%201500%5Bpage%5D%20AND%202001%5Bpdat%5D(270) Jones G, Strugnell SA, DeLuca HF. Current understanding of the molecular actions of vitamin D. Physiol Rev 1998; 78(4):1193-1231.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=78%5Bvolume%5D%20AND%204%5Bissue%5D%20AND%201193%5Bpage%5D%20AND%201998%5Bpdat%5D(271) Mathieu C, Waer M, Laureys J, Rutgeerts O, Bouillon R. Prevention of autoimmune diabetes in NOD mice by 1,25 dihydroxyvitamin D3. diabetol 1994; 37(6):552-558.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=7926338&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(272) Gregori S, Giarratana N, Smiroldo S, Uskokovic M, Adorini L. A 1alpha,25-dihydroxyvitamin D(3) analog enhances regulatory T-cells and arrests autoimmune diabetes in NOD mice. diab 2002; 51(5):1367-1374.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=51%5Bvolume%5D%20AND%205%5Bissue%5D%20AND%201367%5Bpage%5D%20AND%202002%5Bpdat%5D(273) Fitau J, Boulday G, Coulon F, Quillard T, Charreau B. The adaptor molecule Lnk negatively regulates tumor necrosis factor-alpha-dependent VCAM-1 expression in endothelial cells through inhibition of the ERK1 and -2 pathways. J Biol Chem 2006; 281(29):20148-20159.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=281%5Bvolume%5D%20AND%2029%5Bissue%5D%20AND%2020148%5Bpage%5D%20AND%202006%5Bpdat%5D(274) Mashima R, Saeki K, Aki D, Minoda Y, Takaki H, Sanada T et al. FLN29, a novel interferon- and LPS-inducible gene acting as a negative regulator of toll-like receptor signaling. J Biol Chem 2005; 280(50):41289-41297.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=280%5Bvolume%5D%20AND%2050%5Bissue%5D%20AND%2041289%5Bpage%5D%20AND%202005%5Bpdat%5D(275) Mustelin T, Vang T, Bottini N. Protein tyrosine phosphatases and the immune response. Nat Rev Immunol 2005; 5(1):43-57.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=15630428&ordinalpos=17&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(276) Mathew PA, Chuang SS, Vaidya SV, Kumaresan PR, Boles KS, Pham HT. The LLT1 receptor induces IFN-gamma production by human natural killer cells. Mol Immunol 2004; 40(16):1157-1163.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=40%5Bvolume%5D%20AND%2016%5Bissue%5D%20AND%201157%5Bpage%5D%20AND%202004%5Bpdat%5D(277) Ellery JM, Nicholls PJ. Alternate signalling pathways from the interleukin-2 receptor. Cytokine Growth Factor Rev 2002; 13(1):27-40.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=11750878&ordinalpos=22&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(278) Dardalhon V, Schubart AS, Reddy J, Meyers JH, Monney L, Sabatos CA et al. CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions. J Immunol 2005; 175(3):1558-1565.
http://www.ncbi.nlm.nih.gov/sites/entrez?orig_db=PubMed&db=PubMed&cmd=Search&term=175%5Bvolume%5D%20AND%203%5Bissue%5D%20AND%201558%5Bpage%5D%20AND%202005%5Bpdat%5D(279) Dahlman I, Eaves IA, Kosoy R, Morrison VA, Heward J, Gough SC et al. Parameters for reliable results in genetic association studies in common disease. Nat Genet 2002; 30(2):149-150.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11799396
(280) Field LL, Tobias R, Magnus T. A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 1994; 8(2):189-194.
(281) Luo D-F, Bui MM, Muir A, Maclaren NK, Thomson G, She J-X. Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am J Hum Genet 1995; 57:911-919.
(282) Zamani M, Pociot F, Raeymaekers P, Nerup J, Cassiman J-J. Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population. Hum Genet 1996; 98:491-496.
(283) Luo D-F, Buzzetti R, Rotter JI, Maclaren NK, Raffel LJ, Nistico L et al. Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5, and IDDM8. Hum Mol Genet 1996; 5(5):693-698.
(284) Zhoucun A, Zhang S, Xiao C. Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population. Chin Med Sci J 2001; 16(2):120-122.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12901503
(285) Davies JL, Kawaguchi S, Bennett ST, Copeman JB, Cordell HJ, Pritchard P. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994; 371:130-136.
(286) Hasimoto L, Habita C, Beressi JP, Delepine M, Besse C, Cambon-Thomsen A et al. Genetic Mapping of a Susceptibility locus for Insulin-dependent Diabetes Mellitus on Chromosome 11q. Nature 1994; 371(8):161-164.
(287) Cordell HJ, Todd JA, Bennett ST, Kawaguchi Y, Farrall M. Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type I diabetes. Am J Hum Genet 1995; 57:920-934.
(288) Buhler J, Owerbach D, Schaffer AA, Kimmel M, Gabbay KH. Linkage analyses in type I diabetes mellitus using CASPAR, a software and statistical program for conditional analysis of polygenic diseases. Hum Hered 1997; 47(4):211-222.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9239508
(289) Nakagawa Y, Kawaguchi Y, Twells RCJ, Muxworthy C, Hunter KMD, Wilson A et al. Fine mapping of the diabetes-susceptibility locus, IDDM4, on chromosome 11q13. Am J Hum Genet 1998; 63:547-556.
(290) Eckenrode S, Marron MP, Nicholls R, Yang MC, Yang JJ, Guida Fonseca LC et al. Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses. Hum Genet 2000; 106(1):14-18.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10982176
(291) Pritchard LE, Kawaguchi Y, Reed PW, Copeman JB, Davies JL, Barnett AH et al. Analysis of the CD3 gene region and type I diabetes: application of fluorescence-based technology to linkage disequilibrium mapping. Hum Mol Genet 1995; 4(2):197-202.
(292) Wong S, Moore S, Orisio S, Millward A, Demaine AG. Susceptibility to type I diabetes in women is associated with the CD3 epsilon locus on chromosome 11. Clin Exp Immunol 1991; 83:69-73.
(293) Irwin ML, Ainsworth BE, Stolarczyk LM, Heyward VH. Predictive accuracy of skinfold equations for estimating body density of African-American women. Med Sci Sports Exerc 1998; 30(11):1654-1658.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9813880
(294) Harada Y, Ozaki K, Suzuki M, Fujiwara T, Takahashi E, Nakamura Y et al. Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1. J Hum Genet 1999; 44(5):330-336.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10496078
(295) Apelqvist A, Li H, Sommer L, Beatus P, Anderson DJ, Honjo T et al. Notch signalling controls pancreatic cell differentiation. Nature 1999; 400(6747):877-881.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10476967
(296) Chervonsky AV, Wang Y, Wong FS, Visintin I, Flavell RA, Janeway CA et al. The role of Fas in autoimmune diabetes. Cell 1997; 89:17-24.
(297) Stassi G, De Maria R, Trucco G, Rudert W, Testi R, Galluzzo A et al. Nitric oxide primes pancreatic beta cells for Fas-mediated destruction in insulin-dependent diabetes mellitus. J Exp Med 1997; 186(8):1193-1200.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9334358
(298) Davies JL, Cucca F, Goy JV, Atta ZAA, Merriman ME, Wilson A et al. Saturation multipoint linkage mapping of chromosome 6q in type I diabetes. Hum Mol Genet 1996; 5(7):1071-1074.
(299) Delepine M, Pociot F, Habita C, Hashimoto L, Frougel P, Rotter J et al. Evidence of a non-MHC susceptiblity locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 1997; 60:174-187.
(300) Vaidya B, Imrie H, Perros P, Young ET, Kelly WF, Carr D et al. Evidence for a new Graves disease susceptibility locus at chromosome 18q21. Am J Hum Genet 2000; 66(5):1710-1714.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10762555
(301) Bohren KM, Nadkarni V, Song JH, Gabbay KH, Owerbach D. A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type 1 diabetes mellitus. J Biol Chem 2004; 279:27233-27238.
(302) Park Y, Park S, Kang J, Yang S, Kim D. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005; 37:112-113.
(303) Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD et al. Assessing the validity of the association between the SUM04 M55V variant and risk of type 1 diabetes. Nat Genet 2005; 37(2):111-112.
(304) Smyth DJ, Howson JM, Lowe CE, Walker NM, Lam AC, Nutland S et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005; 37(2):110-111.
(305) Kosoy R, Concannon P. Functional variants in SUMO4, TAB2, and NFkappaB and the risk of type 1 diabetes. Genes Immun 2005; 6(3):231-235.
(306) Noso S, Ikegami H, Fujisawa T, Kawabata Y, Asano K, Hiromine Y et al. Genetic Heterogeneity in Association of the SUMO4 M55V Variant With Susceptibility to Type 1 Diabetes. diab 2005; 54:3582-3586.
(307) Hodge SE, Anderson CE, Neiswanger K, Field LL, Spence MA, Sparkes RS et al. Close genetic linkage between diabetes mellitus and kidd blood group. Lancet 1981; 2(8252):893-895.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=6117683
(308) Merriman T, Twells R, Merriman M, Eaves I, Cox R, Cucca F et al. Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21. Hum Mol Genet 1997; 6:1003-1010.
(309) Merriman TR, Eaves IA, Twells RC, Merriman ME, Danoy PA, Muxworthy CE et al. Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6). Hum Mol Genet 1998; 7(3):517-524.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9467012
(310) Holmes DI, Wahab NA, Mason RM. Cloning and characterization of ZNF236, a glucose-regulated Kruppel-like zinc-finger gene mapping to human chromosome 18q22-q23. Genomics 1999; 60(1):105-109.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10458916
(311) Copeman JB, Cucca F, Hearne CM, Cornall RJ, Reed PW, Ronningen KS et al. Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nat Genet 1995; 9(1):80-85.
(312) Luo D-F, Maclaren NK, Huang H-S, Muir A, She J-X. Intrafamilial and case-control association analysis of D2S152 in insulin-dependent diabetes. Autoimmunity 1995; 21:143-147.
(313) Kristiansen OP, Pociot F, Bennett EP, Clausen H, Johannesen J, Nerup J et al. IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group. Hum Mutat 2000; 15(3):295-296.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10679951
(314) Owerbach D, Gabbay KH. The HOXD8 locus (2q31) is linked to type I diabetes: interaction with chromosome 6 and 11 disease susceptibility genes. diab 1995; 44:132-136.
(315) Iwata I, Nagafuchi S, Nakashima H, Kondo S, Koga T, Yokogawa Y et al. Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese. diab 1999; 48(2):416-419.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10334323
(316) Hansen L, Jensen JN, Urioste S, Petersen HV, Pociot F, Eiberg H et al. NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiology and Genetics Group. diab 2000; 49(5):876-878.
(317) Dupont S, Dina C, Hani EH, Froguel P. Absence of replication in the French population of the association between beta 2/NEUROD-A45T polymorphism and type 1 diabetes. Diabetes Metab 1999; 25(6):516-517.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10633878
(318) Malecki MT, Klupa T, Moczulski DK, Rogus JJ. The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 1 diabetes mellitus in caucasians. Exp Clin Endocrinol Diabetes 2003; 111(5):251-254.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12951629
(319) Bennett EP, Hassan H, Mandel U, Hollingsworth MA, Akisawa N, Ikematsu Y et al. Cloning and characterization of a close homologue of human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase-T3, designated GalNAc-T6. Evidence for genetic but not functional redundancy. J Biol Chem 1999; 274(36):25362-25370.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10464263
(320) Owerbach D. Physical and genetic mapping of IDDM8 on chromosome 6q27. diab 2000; 49(3):508-512.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10868976
(321) Paterson AD, Naimark DM, Petronis A. The analysis of parental origin of alleles may detect susceptibility loci for complex disorders. Hum Hered 1999; 49(4):197-204.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10436381
(322) Myerscough A, John S, Barrett JH, Ollier WE, Worthington J. Linkage of rheumatoid arthritis to insulin-dependent diabetes mellitus loci: evidence supporting a hypothesis for the existence of common autoimmune susceptibility loci. Arthritis Rheum 2000; 43(12):2771-2775.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11145035
(323) Owerbach D, Pina L, Gabbay KH. Association of a CAG/CAA repeat sequence in the TBP gene with type 1 diabetes. Biochem Biophys Res Commun 2004; 323:865-869.
(324) McCann JA, Xu YQ, Frechette R, Guazzarotti L, Polychronakos C. The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect. J Clin Endocrinol Metab 2004; 89:5700-5706.
(325) Paterson AD, Rahman P, Petronis A. IDDM9 and a locus for rheumatoid arthritis on chromosome 3q appear to be distinct. Hum Immunol 1999; 60(9):883-885.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10527397
(326) Laine AP, Turpeinen H, Veijola R, Hermann R, Simell O, Knip M et al. Evidence for linkage to an association with type 1 diabetes at the 3q21 region in the Finnish population. Genes Immun 2006; 7:69-72.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16292340
(327) Reed P, Cucca F, Jenkins S, Merriman M, Wilson A, McKinney P et al. Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. Hum Mol Genet 1997; 6:1011-1016.
(328) Chistiakov DA, Seryogin Y, Savost'anov KV, Zilberman LI, Titovich EV, Kuraeva TL et al. Evidence for a Type 1 Diabetes Susceptibility Locus (IDDM10) on Chromosome 10p11-q11 in a Russian Population. Scand J Immunol 2004; 60(3):316-323.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15320890
(329) Johnson GC, Koeleman BP, Todd JA. Limitations of stratifying sib-pair data in common disease linkage studies: an example using chromosome 10p14-10q11 in type 1 diabetes. Am J Med Genet 2002; 113(2):158-166.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12407706
(330) Paterson AD, Petronis A. Age of diagnosis-based linkage analysis in type 1 diabetes. Eur J Hum Genet 2000; 8(2):145-148.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10757648
(331) Ide A, Kawasaki E, Abiru N, Sun F, Fukushima T, Takahashi R et al. Stromal-cell derived factor-1 chemokine gene variant is associated with type 1 diabetes age at onset in Japanese population. Hum Immunol 2003; 64:973-978.
(332) Nejentsev S, Smink LJ, Smyth D, Bailey R, Lowe CE, Payne F et al. Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11. BMC Genet 2007; 8:24.:24.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17509149&ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(333) Field LL, Tobias R, Thomson G, Plon S. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics 1996; 33:1-8.
(334) Heron L, Virsolvy A, Apiou F, Le Cam A, Bataille D. Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta-cell K(ATP) channels. diab 1999; 48(9):1873-1876.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10480622
(335) Pociot F, Larsen ZM, Zavattari P, Deidda E, Nerup J, Cattaneo M et al. No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. Diabetes Metab Res Rev 2001; 17(4):292-295.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11544613
(336) Hawkes CJ, Schloot NC, Marks JB, Willemen SJ, Drijfhout JW, Mayer EK et al. T-Cell Lines Reactive to an Immunodominant Epitope of the Tyrosine Phosphatase-Like Autoantigen IA-2 in Type 1 Diabetes. diab 2000; 49:356-366.
(337) Paterson AD, Petronis A. Sex of affected sibpairs and genetic linkage to type 1 diabetes. Am J Med Genet 1999; 84(1):15-19.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10213040
(338) Fu J, Ikegami H, Kawaguchi Y, Fujisawa T, Kawabata Y, Hamada Y et al. Association of distal chromosome 2q with IDDM in Japanese subjects. diabetol 1998; 41:228-232.
(339) Dotta F, Dionisi S, Viglietta V, Tiberti C, Matteoli MC, Cervoni M et al. T-cell mediated autoimmunity to the insulinoma-associated protein 2 islet tyrosine phosphatase in type 1 diabetes mellitus. Eur J Endocrinol 1999; 141(3):272-278.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10474125
(340) Owerbach D, Naya FJ, Tsai MJ, Allander SV, Powell DR, Gabbay KH. Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35. diab 1997; 46(6):1069-1074.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9166681
(341) Nerup J, Pociot F. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001; 69(6):1301-1313.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11598829
(342) Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM et al. An imprinted gene(s) for diabetes? Nat Genet 1995; 9(2):110-112.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7719335
(343) Haig D. Is human insulin imprinted? Nat Genet 1994; 7(1):10.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7993432
(344) Field LL, Larsen Z, Pociot F, Nerup J, Tobias R, Bonnevie-Nielsen V. Evidence for a locus (IDDM16) in the immunoglobulin heavy chain region on chromosome 14q32.3 producing susceptibility to type 1 diabetes. Genes Immun 2002; 3(6):338-344.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12209360
(345) Verge CF, Vardi P, Babu S, Bao F, Erlich HA, Bugawan T et al. Evidence for oligogenic inheritance of type 1A diabetes in a large Bedouin Arab family. J Clin Invest 1998; 102(8):1569-1575.
(346) Babu SR, Bao F, Roberts CM, Martin AK, Gowan K, Eisenbarth GS et al. Caspase 7 is a positional candidate gene for IDDM17 in a Bedouin Arab family. Annals New York Academy of Sciences: IDS Meeting. In press.
(347) Bao F, Babu SR, Roberts CM, Martin AK, Gowan K, Eisenbarth GS et al. Single nucleotide polymorphism study of IDDM17 in Bedouin Arab family. Annals New York Academy of Sciences: IDS Meeting. In press.
(348) Lin DY, Feuer EJ, Etzioni R, Wax Y. Estimating medical costs from incomplete follow-up data. Biometrics 1997; 53:419-434.
(349) Murphy VJ, Harrison LC, Rudert WA, Luppi P, Trucco M, Fierabracci A et al. Retroviral superantigens and type 1 diabetes mellitus. Cell 1998; 95(1):9-11.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9778241
(350) Muir A, Ruan QG, Marron MP, She JX. The IDDMK(1,2)22 retrovirus is not detectable in either mRNA or genomic DNA from patients with type 1 diabetes. diab 1999; 48(1):219-222.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9778241
(351) Badenhoop K, Donner H, Neumann J, Herwig J, Kurth R, Usadel KH et al. IDDM patients neither show humoral reactivities against endogenous retroviral envelope protein nor do they differ in retroviral mRNA expression from healthy relatives or normal individuals. diab 1999; 48(1):215-218.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9892247
(352) Cucca F, Goy JV, Kawaguchi Y, Esposito L, Merriman ME, Wilson AJ et al. A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Nat Genet 1998; 19:301-302.
(353) Warram JH, Martin BC, Krolewski AS. Risk of IDDM in children of diabetic mothers decreases with increasing maternal age at pregnancy. diab 1991; 40:1679-1684.
(354) Bleich D, Polak M, Eisenbarth GS, Jackson RA. Decreased risk of type I diabetes in offspring of mothers who acquire diabetes during adrenarchy. diab 1993; 42:1433-1439.
(355) Vadheim CM, Rotter JI, Maclaren NK, Riley WJ, Anderson CE. Preferential transmission of diabetic alleles within the HLA gene complex. N Engl J Med 1986; 315(21):1314-1318.
(356) Deschamps I, Hors J, Clerget-Darpoux F, Gardais E, Robert JJ, Marcelli-Berge A et al. Excess of maternal HLA-DR3 antigens in HLA DR3,4 positive type 1 (insulin-dependent) diabetic patients. diabetol 1990; 33(7):425-430.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2401398
(357) Bain SC, Rowe BR, Barnett AH, Todd JA. Parental origin of diabetes-associated HLA types in sibling pairs with type I diabetes. diab 1994; 43:1462-1468.
(358) Julier C, Hyer RN, Davies RN, Merlin F, Soularue P, Briant L et al. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 1991; 354:155-159.
(359) Bui MM, Luo D-F, She JY, Maclaren NK, Muir A, Thomson G et al. Paternally transmitted IDDM2 influences diabetes susceptibility despite biallelic expression of the insulin gene in human pancreas. J Autoimmun 1996; 9:97-103.
(360) Hoffman AR, Vu TH. Genomic imprinting. Scientific Amer 1996;52-61.
(361) Giannoukakis N, Deal C, Paquette J, Goodyer CG, Polychronakos C. Parental genomic imprinting of the human IGF2 gene. Nat Genet 1993; 4:98-101.
(362) Matsuoka S, Thompson JS, Edwards MC, Barletta JM, Grundy P, Kalikin LM et al. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor,p57KIP2, on chromosome 11p15. Proc Natl Acad Sci USA 1996; 93:3026-3030.
(363) Giddings SJ, King CD, Harman KW, Flood JF, Carnaghi LR. Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nat Genet 1994; 6:310-313.
(364) Miceli D, Zeller D, Brown C, Ricordi C, Pugliese A. Insulin gene expression and imprinting in pancreas and lymphoid organs. Diabetes 48 (Suppl. 1), A190. 1999.
Ref Type: Abstract
(365) Moore GE, Abu-Amero SN, Bell G, Wakeling EL, Kingsnorth A, Stanier P et al. Evidence that insulin is imprinted in the human yolk sac. diab 2001; 50(1):199-203.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11147788
(366) Deltour L, Montagutelli X, Guenet JL, Jami J, Paldi A. Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2. Dev Biol 1995; 168(2):686-688.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7729600
(367) Vafiadis P, Ounissi-Benkalha H, Palumbo M, Grabs R, Rousseau M, Goodyer CG et al. Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes. J Clin Endocrinol Metab 2001; 86(8):3705-3710.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11502799
(368) Bennett ST, Wilson AJ, Esposito L, Bouzekri N, Undlien DE, Cucca F et al. Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele.  The IMDIAB Group. Nat Genet 1997; 17:350-352.
(369) Duvillie B, Bucchini D, Tang T, Jami J, Paldi A. Imprinting at the mouse Ins2 locus: evidence for cis- and trans-allelic interactions. Genomics 1998; 47(1):52-57.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9465295
(370) LaSalle JM, Lalande M. Homologous association of oppositely imprinted chromosomal domains. Science 1996; 272(5262):725-728.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8614834
(371) Black DL. Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology. Cell 2000; 103(3):367-370.
(372) Diez J, Park Y, Zeller M, Brown D, Garza D, Ricordi C et al. Differential splicing of the IA-2 mRNA in pancreas and lymphoid organs as a permissive genetic mechanism for autoimmunity against the IA-2 type 1 diabetes autoantigen. diab 2001; 50(4):895-900.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=11289059&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(373) Solimena M, Dirkx R, Jr., Hermel JM, Pleasic-Williams S, Shapiro JA, Caron L et al. ICA 512, an autoantigen of type I diabetes, is an intrinsic membrane protein of neurosecretory granules. EMBO J 1996; 15(9):2102-2114.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8641276
(374) Rabin DU, Pleasic SM, Shapiro JA, Yoo-Warren H, Oles J, Hicks JM et al. Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases. J Immunol 1994; 152(6):3183-3188.
(375) Payton MA, Hawkes CJ, Christie MR. Relationship of the 37,000- and 40,000-Mr tryptic fragments of islet antigens in insulin-dependent diabetes to the protein tyrosine phosphatase-like molecule IA-2 (ICA512). J Clin Invest 1995; 96:1506-1511.
(376) Park YS, Kawasaki E, Kelemme K, Yu L, Schiller MR, Rewers M et al. Humoral autoreactivity to an alternative spliced variant of ICA512/IA2 in type 1 diabetes. diabetol 2000; 50:895-900.
(377) Bearzatto M, Naserke H, Piquer S, Koczwara K, Lampasona V, Williams A et al. Two distinctly HLA-associated contiguous linear epitopes uniquely expressed within the islet antigen 2 molecule are major autoantibody epitopes of the diabetes-specific tyrosine phosphatase-like protein autoantigens. Journal of Immunology 2002; 168(8):4202-4208.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=11937581&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(378) Naserke HE, Ziegler AG, Lampasona V, Bonifacio E. Early development and spreading of autoantibodies to epitopes of IA-2 and their association with progression to type 1 diabetes. J Immunol 1998; 161(12):6963-6969.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9862731
(379) Bonifacio E, Christie MR. Tyrosine phosphatase-like proteins as autoantigens in insulin-dependent mellitus: the targets for 37/40K antibodies. Diab Nutr Metab 1996; 9:183-187.
(380) Lampasona V, Bearzatto M, Genovese S, Bosi E, Ferrari M, Bonifacio E. Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domain of the protein tyrosine phosphatase-like IA-2 autoantigen. J Immunol 1996; 157:2707-2711.
(381) Peakman M, Stevens EJ, Lohmann T, Narendran P, Dromey J, Alexander A et al. Naturally processed and presented epitopes of the islet cell autoantigen IA-2 eluted from HLA-DR4 [see comments]. J Clin Invest 1999; 104(10):1449-1457.
(382) Honeyman M. How robust is the evidence for viruses in the induction of type 1 diabetes? Curr Opin Immunol 2005; 17:616-623.
(383) Norris JM, Barriga K, Klingensmith G, Hoffman M, Eisenbarth GS, Erlich H et al. Timing of cereal exposure in infancy and risk of islet autoimmunity.  The Diabetes Autoimmunity Study in the Young (DAISY). JAMA 2003; 290(13):1713-1720.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=14519705
(384) Ziegler AG, Schmid S, Huber D, Hummel M, Bonifacio E. Early infant feeding and risk of developing type 1 diabetes-associated autoantibodies. JAMA 2003; 290(13):1721-1728.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14519706
(385) Conrad B, Weissmahr RN, Böni J, Arcari R, Schüpbach J, Mach B. A human endogenous retroviral superantigen as candidate autoimmune gene in type 1 diabetes. Cell 1997; 90(2):303-313.
(386) Conrad B, Weidmann E, Trucco G, Rudert WA, Behboo R, Ricordi C et al. Evidence for superantigen involvement in insulin-dependent diabetes mellitus aetiology. Nature 1994; 371(6495):351-355.
(387) Knerr I, Repp R, Dotsch J, Gratzki N, Hanze J, Kapellen T et al. Quantitation of gene expression by real-time PCR disproves a "retroviral hypothesis" for childhood-onset diabetes mellitus. Pediatr Res 1999; 46(1):57-60.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10400135
(388) Kim A, Jun HS, Wong L, Stephure D, Pacaud D, Trussell RA et al. Human endogenous retrovirus with a high genomic sequence homology with IDDMK(1,2)22 is not specific for Type I (insulin-dependent) diabetic patients but ubiquitous. diabetol 1999; 42(4):413-418.
(389) Marguerat S, Wang WY, Todd JA, Conrad B. Association of human endogenous retrovirus K-18 polymorphisms with type 1 diabetes. diab 2004; 53(3):852-854.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14988274
(390) Rewers M, Bugawan TL, Norris JM, Blair A, Beaty B, Hoffman M et al. Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY). diabetol 1996; 39(7):807-812.
(391) Jorns A, Kubat B, Tiedge M, Wedekind D, Hedrich HJ, Kloppel G et al. Pathology of the pancreas and other organs in the diabetic LEW.1AR1/Ztm- iddm rat, a new model of spontaneous insulin-dependent diabetes mellitus. Virchows Arch 2004; 444(2):183-189.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14735361
(392) Hummel M, Bonifacio E, Schmid S, Walter M, Knopff A, Ziegler AG. Brief communication: Early appearance of islet autoantibodies predicts childhood type 1 diabetes in offspring of diabetic parents. Annals of Internal Medicine 2004; 140(11):882-886.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15172902&ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(393) Ferber KM, Keller E, Albert ED, Ziegler AG. Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes. J Clin Endocrinol Metab 1999; 84(7):2342-2348.
(394) Hermann R, Bartsocas CS, Soltesz G, Vazeou A, Paschou P, Bozas E et al. Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence. Diabetes Metab Res Rev 2004; 20(4):322-329.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15250035
(395) Aly T, Ide A, Humphrey K., Barker JM, Steck AK, Erlich HA et al. Genetic prediction of autoimmunity: Initial oligogenic prediction of anti-islet autoimmunity amongst DR3/DR4-DQ8 relatives of patients with type 1A diabetes. J Autoimmun 2005; 25(Suppl):40-45.
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=16242305&ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum(396) Siegler M, Amiel S, Lantos J. Scientific and ethical consequences of disease prediction. diabetol 1992; 35(Suppl 2):S60-S68.
(397) Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O et al. AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype. J Clin Endocrinol Metab 2002; 87(6):2568-2574.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12050215
(398) Perheentupa J. APS-I/APECED: The clinical disease and therapy. In: Eisenbarth GS, editor. Autoimmune Polyendocrine Syndromes. Philadelphia: W.B. Saunders Company, 2002: 295-320.
(399) Mathis D, Benoist C. Back to central tolerance. Immunity 2004; 20(5):509-516.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15142520
(400) Anderson M, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D. The cellular mechanism of Aire control of T cell tolerance. Immunity 2005; 23:227-239.
(401) Gotter J, Brors B, Hergenhahn M, Kyewski B. Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes coloalized in chromosomal clusters. J Exp Med 2004; 199:155-166.
(402) Derbinski J, Gabler J, Brors B, Tierling S, Jonnakuty S, Hergenhahn M et al. Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels. J Exp Med 2005; 202:33-45.
(403) Fontenot JD, Gavin MA, Rudensky AY. Foxp3 programs the development and function of CD4+CD25+ regulatory T cells. Nat Immunol 2003; 4(4):330-336.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12612578
(404) Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N et al. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003; 55(3):149-156.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12750858
(404) Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N et al. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003; 55(3):149-156.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12750858
(405) Zavattari P, Deidda E, Pitzalis M, Zoa B, Moi L, Lampis R et al. No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. diab 2004; 53(7):1911-1914.
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12750858
(406) Chen Z, Herman AE, Matos M, Mathis D, Benoist C. Where CD4+CD25+ T reg cells impinge on autoimmune diabetes. J Exp Med 2005; 202(10):1387-1397.
http://www.ncbi.nlm.nih.gov/pubmed/16301745?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
(407) Lundsgaard D, Holm TL, Hornum L, Markholst H. In vivo control of diabetogenic T-cells by regulatory CD4+CD25+ T-cells expressing Foxp3. diab 2005; 54(4):1040-1047.
(408) Jaeckel E, von Boehmer H, Manns MP. Antigen-Specific FoxP3-Transduced T-Cells Can Control Established Type 1 Diabetes. diab 2005; 54(2):306-310.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15591438
(409) Field SF, Howson JM, Smyth DJ, Walker NM, Dunger DB, Todd JA. Analysis of the type 2 diabetes gene, TCF7L2, in 13,795 type 1 diabetes cases and control subjects. diabetol 2007; 50(1):212-213.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17063324&query_hl=3&itool=pubmed_docsum