Genetics of type 1 diabetes mellitus

Pediatric Endocrinology Reviews

Volumn 3, Issue SUPPL. 3, 2006, Pages 508-513

  Bartsocas, Christos S ^a,b   Gerasimidi Vazeou, Andriani ^a  

^a P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

^b NONE   (Greece)

Author keywords

Genetics; HLA; Type 1 diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FIBROBLAST GROWTH FACTOR 3; INSULIN; INTERLEUKIN 12; INTERLEUKIN 12B; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 11Q; CHROMOSOME 1P; CHROMOSOME 2Q; CHROMOSOME 6P; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RISK; HEREDITY; HLA SYSTEM; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; PATHOPHYSIOLOGY;

DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; INSULIN;

EID: 33751020830     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (72)

1. Spielman RS, Baker L, Zmijewski CM. Gene dosage and susceptibility to insulin dependent diabetes. Ann Hum Genet 1980;44:135-150
2. Boomsma D, Busjahn A, Pettonen L. Classical twin studies and beyond. Nat Rev Genet 1990;46:222-228
3. Redondo MJ, Fain PR, Eisenbarth GS. Genetics of type 1A diabetes. Recent Prog Norm Res 2001;56:69-89
4. Risch N. Assessing the role of HLA-linked and unlinked determinants o disease. Am J Hum Genet 1987;40:1-14
5. Kyvik KO, Green A, Beck Nielsen H. Concordance rates of insulin dependent diabetes mellitus, a population based study of young Danish twins. BMJ 1995;311:913-917
6. Rich SS. Mapping genes in diabetes: genetic epidemiological perspective. Diabetes 1990;39:13-15
7. Field LL. Genetic linkage and association studies of type 1 diabetes: challenges and rewards. Diabetologia 2002;45:21-35
8. Hirschhorn JN. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 2003;4:87-100
9. Cox NJ, Wapelhorst B, Morrison VA, Johnson L, Pinchuk L, Spielman RS, Todd JA, Concannon P: 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;69:820-830
10. Field LL: Genetic linkage and association studies of Type I diabetes: challenges and rewards (Review). Diabetologia 2002;45:21-35
11. Bennett ST, Lucassen AM, Gough SC, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F Nerup J, Bouzekri N, Cambon-Thomsen A, Ronningen KS, Barnett AH, Bain SC, Todd JA. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 1995;9:284-292
12. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SC, Jenkins SC, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC, Todd JA. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994;371:130-136
13. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Ranch HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson OJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 2003;423:306-311
14. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes. Nat Gen 2004;36:337-338
15. Smyth DJ, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JMM, Walker N, Vella A, Nutland S, Rance HE, Maier LM, Barrat BJ, Guja C, Ionesku-Tirgoviste C, Savage D, Dunger DB, Widmer B, Strachan DP, Ring SM, Clayton DG, Twells RCJ, Gough SCL. Replication of an association between the lymphoid tyrosine phosphatase locus LYP/PTPN22 with type 1 diabetes and evidence for its role as a general autoimmunity locus. Diabetes 2004;53:3020-3023
16. Reijinen H and Concannon P: Genetics of type 1 diabetes. In Joslin's Diabetes Mellitus. Kahn RC, Weir GC, King CL, Jacobson AM, Moses AC, Smith RJ. Lippincott Williams & Wilkins 14th Ed 2005:355-369
17. Platz P, Jakobsen BK, Morling N, et al (fill the others????). HLA-D and DR antigens in genetic analysis of insulin dependent diabetes mellitus. Diabetologia 1981;21:108-115
18. Svejgaard A, Platz P, Ryder LP. HLA and diseases 1982- a survey. Immunol Rev 1983;70:193-218
19. Gabriel SB, Schaffer SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adayemo A, Cooper R, Ward R, Lander ES, Daly MJ, Alshuler D, The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229
20. Kim MS, Polychronakos C. Immunogenetics of type 1 diabetes. Horm Res 2005;64:180-188
21. Deschamps I, Beressi JP, Khalil I, Robert JJ, Hors J. The role of genetic predisposition to type 1 (insulin dependent) diabetes mellitus. Ann Med 1991;23:427-435
22. Schranz DB, Lernmark Ake. Immunology in Diabetes: An update. Diabet Metab Rev 1998;14:29-30
23. Khalil I, Auriol L, Gobet M, Morin L, Lepage V, Deschamps I, Park MS, Degos L, Galibert F, Hors J. A comparison of HLA-DqbetaAsp57-negative and HLA-DQalpha Arg52 confers susceptibility to insulin dependent diabetes mellitus. J Clin Invest 1990;85:1315-1319
24. Nepom BS, Nepom GT, Coleman M, Kwok WW. Critical contribution of beta chain residues 57 in peptide binding ability of both HLA-DR and DQ molecules. Proc Natl Acad Sci USA 1996;93:7202-7206
25. Sheehy MJ, Scharf SJ, Rowe JR, Neme de Gimenez MH, Meske LM, Erlich HA, Nepom BS. A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and DQ alleles. J Clin Inv 1989;83:830-835
26. Pugliese A. Genetics of type 1 diabetes. Endocrinol Clin North Am 2004;33:1-16
27. Undlien DE, Friede T, Rammensee HG, Joner G, Dahl-Jorgensen K, Sovik O, Akselsen HE, Knutsen I, Ronningen KS, Thorsby E. HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection. Diabetes 1997;46:193-199
28. Nejentsev S, Reijonen H, Adojaan B, Kovalchuk L, Sochnevs A, Schwartz EI, Akerblom HK, Ilonen J. The effect of HLA-B allele on tne IDDM risk defined by DRB1×04 subtypes and DQB1×0302. Diabetes 1997;46:1888-1892
29. Awata T, Kanazawa Y. Genetic markers for insulin-dependent diabetes mellitus in Japanese. Diabetes Res Clin Pract 1994;24:583-87
30. Kimplimaki T, Kulmala P, Savola K, Vähäsalo P, Reijonen H, Ilonen J, Akerblom HK, Knip M and the childhood diabetes in Finland study group. Disease associated autoantibodies as surrogate markers of type 1 diabetes in young children at increased genetic risk. J Clin Endocrinol Metab 2000;85:1126-1132
31. Paschou P, Bozas E, Dokopoulou M, Havaram B, Malamitsi-Puchner A, Ylli A, Ylli Z, Thymelli I, Gerasimidi-Vazeou A, Bartsocas CS. HLA alleles and type 1 diabetes mellitus in low disease incidence populations of Southern Europe: a comparison of Greeks and Albanians. J Pediatr Endocrinol Metab 2004;17:173-182
32. Cucca E, Wuntoni F, Lampis R, Frau F, Argiolas L, Silvetti M, Angius E, Cao A, De Virgilis S, Congia M. combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin dependent diabetes mellitus in Sardinia. Hum Immunol 1993;37:85-94
33. Penny MA, Jenkins D, Mijovic CH, Jacobs KH, Cavan DA, Yeung VT, Cockram CS, Hawkins BR, Fletcher JA. Barnett AH. Susceptibility to IDDM in a Chinese population- a role of HLA class II alleles. Diabetes 1992;41:914-919
34. Awata T, Kuzuya T, Matsuda A, Iwamoto V. Kanazawa Y. Genetic analysis of HLA class II alleles and susceptibility to type 1 (insulin dependent) diabetes mellitus in Japanese subjects. Diabetologia 1992;35:419-424
35. Hagopiar WA, Sanjeevi CB, Kockum I, Landin-Olsson M, Karlsen AE, Sundqvist G, Dahlquist G, Palmer J, Lernmark A. Glutamate decarboxylase, insulin, islet-cell antibodies and HLA typing to detect diabetes in a general population-based study of Swedish children. J Clin Invest 1995;95:1505-1511
36. Pugllese A, Gianani R, Moromisato R, Awedeh ZL, Alper CA, Erlich HA, Jackson RA, Eisenbarth GS. HLA-DQB1×;0602 is associated with dominant protection even among islet cell antibody positive first degree relatives of patients with insulin dependent diabetes. Diabetes 1995;44:608-613
37. Greenbaum CJ, Schatz DA, Cuthbertson D, Zaidler A, Eisenbarth GS and Krischer JP for the Diabetes Prevention Trial -Type 1 Study Group. Islet cell antibody-positive relatives with Human Leukocyte Antigen DQA1×0102, DQB1×0602: Identification by the Diabetes Prevention Trial -Type 1. J Clin Endocrinol Metab 2000;85:1255-1260
38. Valdes AM, Thomson G, Graham J, Zarghami M, McNeney B, Kockum I, Smith A, Lathrop M, Steenkiste AR, Dorman JS, Noble JA, Hansen JA, Pugliese A, Lernmark A. Swedish Childhood Study Group, Diabetes Incidence in Sweden Study Group, Typel Diabetes Component of the 13th International Histocompatibility Working Group. D65265×15 marks a DRB1×15, DQB1×0602 haptotype associated with attenuated protection from type 1 diabetes mellitus. Diabetologia 2005;48:2540-2543
39. Redondo MJ, Kawasaki E, Mulgrew CL, Noble JA, Erlich HA, Freed BM, Lie BA, Thorsby E, Eisenbarth GS, Undlien DE, Ronningen KS. DR-and DQ-associated protection from type 1A diabetes: comparison of DRB1×1401 and DQA1×0102-DQB1×0602. J Clin Enocrinol Metab 2000;85:3793-3797
40. Altobelli E, Blasetti A, Petrocelli R, Tumini S, Azzarone R, Tiberti S, Battistoni C, Merante D, Verrotti A, Fioroni MA, Iannarelli R, Poccia G, Papola F. HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study. Clin Exp Med 2005;5:72-79
41. Nerup J, Platz P, Andersen OO, Christy M, Lyngsoe J, Poulsen JE, Ryder LP, Nielsen LS, Thomsen M, Svejgaard A. HL-A antigens and diabetes mellitus Lancet 1974;2:864-866
42. 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;63:657-664
43. 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 TID onset. Hum Immunol 2005;66:301-313
44. The MHC Sequencing Consortium. Complete sequence and gene map of a human major histocompatibility complex Nature 1999;401:921-923
45. Lie BA, Todd JA, Pociot F, Nerup J, Akselsen HE, Joner G, Dahl-Jorgensen K, Ronningen KS, Thorsby E, Undlien DE. 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 1999;64:793-800
46. Foissac A, Salhi M, Cambon-Thomsen A. Microsatetlites in the HLA region: 1999 update. Tissue Antigens 2000;55:477-509
47. Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A, Kockum I, Akselsen HE, Thorsby E, Undlien DE. Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1. Genes Immun 2003;4:46-53
48. 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;65:115-119
49. Jackson DG, Capra JD. TAP2 association with insulin-dependent diabetes mellitus is secondary to HLA-DQB1. Hum Immunol 1995;43:57-65
50. Jackson DG, Capra JD. TAP1 alleles in insulin-dependent diabetes mellitus: a newly defined centromeric boundary of disease susceptibility. Proc Natl Acad Sci U S A 1993;90:11079-11083
51. Deng GY, Muir A, Maclaren NK, She JX. Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies. Am J Hum Genet 1995;56:528-534
52. Cruz TD, Valdes AM, Santiago A, Frazer de Llado T, Raffel LJ, Zeidler A, Rotter JI, Erlich HA, Rewers M, Bugawan T, Noble JA. DPB1 alleles are associated with type 1 diabetes susceptibility in multiple ethnic groups. Diabetes 2004;53:2158-2163
53. Lucassen AM, Julie C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 1993;4:305-310
54. 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 microsatellite locus. J Autoimmun 1996;9:415-421
55. Metcalfe KA, Hitman GA, Rowe RE, Hawa M, Huang X, Stewart T, Leslie RD. Concordance for type 1 diabetes in identical twins is affected by insulin genotype. Diabetes Care 2001;24:838-842
56. Julier C, Hyer RN, Davies J, Merlin F, Soularue P, Briant L, Cathelineau G, Deschamps I, Rotter JI, Froguel P, Boitard C, Bell JI, Lathrop GM: Insulin-IGF2 region on chromosome lip encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 1991;354:155-159
57. Nielsen LB, Mortensen HB, Chiarelli F, Holl R, Swift P, de Beaufort C, Pociot F, Hougaard P, Gammeltoft S, Knip M, Hansen L; Hvidore Study Group. Impact of IDDM2 on disease pathogenesis and progression in children with newly diagnosed type 1 diabetes: reduced insulin antibody titers and preserved beta cell function. Diabetologia 2005;23:1-4 (Epub ahead of print)
58. Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D, Concannon P, Gharani N, McCarthy MI, Olavesen MG, McCormack R, Guja C, Ionescu-Tirgoviste C, Undlien DE, Ronningen KS, Gillespie KM, Tuomilehto-Wolf E, Tuomilehto J, Bennett ST, Clayton DG, Cordell HJ, Todd JA. Remapping the Insulin Gene/IDDM2 Locus in Type 1 Diabetes. Diabetes 2004;53:1884-1889
59. Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG, Wickramasinghe S, Colle E, Polychronakos C. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 1997;15:289-292
60. Bennett ST, Todd JA. Human type 1 diabetes and the insulin genes mapping polygenes. Annu Rev Genetics 1996;30:343-370
61. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-516
62. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003;33:177-182
63. Larsen ZM, Kristiansen OP, Mato E, Johannesen J, Puig-Domingo M, de Leiva A, Nerup J, Pociot F. IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). Autoimmunity 1999;31:35-42
64. Anjos S, Polychronakos C. Mechanisms of the genetic susceptibility to type 1 diabetes beyond HLA. Mol Genet Metab 2004;81:187-195
65. Kouki T, Sawai Y, Gardine CA et al. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Grave's disease. J Immunol 2000;165:6606-6611
66. Zhernakova A, Eerligh P, Barrera P, Weseloy JZ, Huizinga TW, Roep BO, Wijmenga C, Koeleman BP. CTLA4 is differentially associated with autoimmune diseases in the Dutch population. Hum Genet 2005;118:58-66
67. Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F, Todd JA, Rich SS; Type 1 Diabetes Genetics Consortium. Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005;54:2995-3001
68. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005;76:561-571
69. Hill RJ, Zozulya S, Lu Yi Gishizky M, Jallal B. The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb and acts as a negative regulator of T-cell activation. Exp Hematol 2002;30:237-244
70. Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P.A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 2004;5:678-680
71. Nerup J, Pociot F. European Consortium for IDDM Studies. A genome wide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001;69:1301-13.
72. Erratum in: Am J Hum Genet 2002;70:1075