Genetic basis of type 1 diabetes: Similarities and differences between east and west

Review of Diabetic Studies

Volumn 5, Issue 2, 2008, Pages 64-72

  Ikegami, Hiroshi ^a   Noso, Shinsuke ^a   Babaya, Naru ^a   Hiromine, Yoshihisa ^a   Kawabata, Yumiko ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autoimmune disease; CTLA4; Genetics; Genome wide association study; HLA; Insulin gene; Interleukin 2 receptor alpha chain; PTPN22; Type 1 diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN CLASS 2; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; HLA DR2 ANTIGEN; HLA DR3 ANTIGEN; HLA DR4 ANTIGEN; HLA DR9 ANTIGEN; INSULIN; INTERLEUKIN 2 RECEPTOR ALPHA; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PROTEIN TYROSINE PHOSPHATASE; SUMO 4 PROTEIN; SUMO PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ASIAN; AUTOIMMUNE DISEASE; CAUCASIAN; CHROMOSOME 6Q; DISEASE ASSOCIATION; ETHNIC DIFFERENCE; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC HETEROGENEITY; GENETIC SIMILARITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HUMAN; IMMUNITY; INSULIN DEPENDENT DIABETES MELLITUS; JAPANESE; POPULATION GENETICS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL DISTRIBUTION; THYROID DISEASE; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 67649333379     PISSN: 16136071     EISSN: 16140575     Source Type: Journal    
DOI: 10.1900/RDS.2008.5.64     Document Type: Review

References (46)

1. Imagawa A, Hanafusa T, Miyagawa J, Matsuzawa Y. A novel subtype of type 1 diabetes mellitus characterized by a rapid onset and an absence of diabetes-related antibodies. N Engl J Med 2000. 342:301-307. (Pubitemid 30075242)
2. Imagawa A, Hanafusa T. Pathogenesis of fulminant type 1 diabetes. Rev Diabet Stud 2006. 3(4):169-177.
3. Imagawa A, Hanafusa T. Fulminant type 1 diabetes: a novel clinical entity requiring special attention by all medical practitioners. Nat Clin Prac Endocrinol Metab 2007. 3:36-45. (Pubitemid 46006611)
4. Biros E, Jordan MA, Baxter AG. Genes mediating environment interactions in type 1 diabetes. Rev Diabet Stud 2005. 2(4):192-1120
5. Thomson G, Valdes AM, Noble JA, Kockum I, Grote MN, Najman J, Erlich HA, Cucca F, Pugliese A, Steenkiste A, et al. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis. Tissue Antigens 2007. 70(2):110-127. (Pubitemid 47024833)
6. Julier C, Hyer RN, Davies J, Merlin F, Soularu P, Briant L, Cathelineau G, Deschamps I, Rotter JI, Froguel P, et al. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 1991. 354:155-159. (Pubitemid 21896801)
7. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Genova GD, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003. 423:506-511. (Pubitemid 36648570)
8. Bottini N, Musumeci L, Alonso A, Rahmouni S, Konstantia N, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes. Nat Genet 2004. 36:337-338. (Pubitemid 38437254)
9. Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, et al. Localization of type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 2005. 76:773-779. (Pubitemid 40563099)
10. The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007. 447(7145):661-678.
11. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007. 39(7):857-864. (Pubitemid 47018195)
12. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007. 448:591-594. (Pubitemid 47206935)
13. Risch N. Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 1987. 40:1-14. (Pubitemid 17036892)
14. Karvonen M, Viik-Kajander M, Moltchanova E, Libman I, LaPorte R, Tuomilehto J. Incidence of childhood type 1 diabetes worldwide. Diabetes Mondiale (DiaMond) Project Group. Diabetes Care 2000. 23:1516-1526.
15. Ikegami H, Ogihara T. Genetics of insulin-dependent diabetes mellitus. Endocrine J 1996. 43:605-613. (Pubitemid 126447894)
16. Ikegami H, Kawabata Y, Noso S, Fujisawa T, Ogihara T. Genetics of type 1 diabetes in Asian and Caucasian populations. Diab Res Clin Prac 2007. 77S:S116-S121. (Pubitemid 47212564)
17. Cho YM, Kim JT, Ko KS, Koo BK, Yang SW, Park MH, Lee HK, Park KS. Fulminant type 1 diabetes in Korea: high prevalence among patients with adult-onset type 1 diabetes. Diabetologia 2007. 50:2276-2279. (Pubitemid 47512413)
18. Kobayashi T, Tamemoto K, Nakanishi K, Kato N, Okubo M, Kajio H, Sugimoto T, Murase T, Kosaka K. Immunogenetic and clinical characterization of slowly progressive IDDM. Diabetes Care 1993. 16:780-788. (Pubitemid 23127186)
19. Zimmet PZ, Tuomi T, Mackay IR, Rowley MJ, Knowles W, Cohen M, Lang DA. Latent autoimmune diabetes mellitus in adults (LADA): the role of antibodies to glutamic acid decarboxylase in diagnosis and prediction of insulin dependency. Diabet Med 1994. 11:299-303. (Pubitemid 24144147)
20. Kawabata Y, Ikegami H, Kawaguchi Y, Fujisawa T, Shintani M, Ono M, Nishino M, Uchigata Y, Lee I, Ogihara T. Asian-specific HLA haplotypes reveal heterogeneity of the contribution of HLA-DR and -DQ haplotypes to susceptibility to type 1 diabetes. Diabetes 2002. 51:545-551. (Pubitemid 34764816)
21. Imagawa A, Hanafusa T, Uchigata Y, Kanatsuka A, Kawasaki E, Kobayashi T, Shimada A, Shimizu I, Maruyama T, Makino H. Different contribution of class II HLA in fulminant and typical autoimmune type 1 diabetes mellitus. Diabetologia 2005. 48:294-300. (Pubitemid 40543302)
22. Nakayama M, Abiru N, Moriyama H, Babaya N, Liu E, Miao D, Yu L, Wegmann DR, Hutton J, Elliott JF, et al. Prime role for an insulin epitope in the development of type 1 diabetes in NOD mice. Nature 2005. 435:220-223. (Pubitemid 40685949)
23. Bell GI, Horita S, Karam JH. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 1984. 33:176-183. (Pubitemid 14184705)
24. Lucassen AM, Julier C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1kb segment of DNA spanning the insulin gene and associated with VNTR. Nat Genet 1993. 4:305-310. (Pubitemid 23205182)
25. Bennett ST, Lucassen AM, Gough SC, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F, et al. 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.
26. Kawaguchi Y, Ikegami H, Shen GQ, Nakagawa Y, Fujisawa T, Hamada Y, Ueda H, Fu J, Uchigata Y, Kitagawa Y, et al. Insulin gene region contributes to genetic susceptibility to, but may not to low incidence of, insulin-dependent diabetes mellitus in Japanese. Biochem Biophys Res Commun 1997. 233:283-287. (Pubitemid 27215952)
27. Ikegami H, Awata T, Kawasaki E, Kobayashi T, Maruyama T, Nakanishi K, Shimada A, Amemiya S, Kawabata Y, Kurihara S, et al. The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multi-center collaborative study in Japan. J Clin Endocrinol Metab 2006. 91:1087-1092. (Pubitemid 43357785)
28. Awata T, Kawasaki E, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, Shimada A, Iizuka H, Kurihara S, Osaki M, et al. Insulin gene/IDDM2 locus in Japanese type 1 diabetes: contribution of class I alleles and influence of class I subdivision in susceptibility to type 1 diabetes. J Clin Endocrinol Metab 2007. 92:1791-1795. (Pubitemid 46997190)
29. Vafiadia 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. (Pubitemid 27098725)
30. Pugliese A, Zeller M, Fernandez A, Zalcberg LJ, Bertlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD. 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 1 diabetes. Nat Genet 1997. 15:293-296. (Pubitemid 27098726)
31. Howson JMM, 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 CTLA-4 gene association. Diabetologia 2007. 50:741-746.
32. Siminovitch KA. PTPN22 and autoimmune disease. Nat Genet 2004. 36:1248-1249. (Pubitemid 39577931)
33. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005. 37:1317-1319. (Pubitemid 41722185)
34. Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, Shimada A, Uga M, Kurihara S, Kawabata Y, et al. Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase (PTPN22) gene: association between promoter polymorphism and type 1 diabetes in Asian populations. Am J Med Genet 2006. 140:586-593. (Pubitemid 43376295)
35. Qu HQ, Montpetit A, Ge B, Hudson TJ, Polychronakos C. Toward further mapping of the association between the IL2RA locus and type 1 diabetes. Diabetes 2007. 56:1174-1176. (Pubitemid 46525085)
36. Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R, Bourget K, Plagnol V, Field S, Atkinson M, et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007. 39:1074-1078. (Pubitemid 47340651)
37. Brand OJ, Lowe CE, Heward JM, Franklyn JA, Cooper JD, Todd JA, Gough SC. Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves'disease using a multilocus test and tag SNPs. Clin Endocrinol 2007. 66:508-512. (Pubitemid 46434929)
38. Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins S, Zheng W, Purohit S, Podolsky RH, Muir A, et al. A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat Genet 2004. 36:837-841. (Pubitemid 39014100)
39. Owerbach D, Pina L, Gabbay KH. A 212-kb region on chromosome 6q25 containing the TAB2 gene is associated with susceptibility to type 1 diabetes. Diabetes 2004. 53:1890-1893. (Pubitemid 38857049)
40. Smyth DJ, Howson JM, Lowe CE, Walker NM, Lam AC, Nutland S, Hutchings J, Tuomilehto-Wolf E, Tuomilehto J, Guja C, et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005. 37:110-111.
41. Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, Hudson TJ, Polychronakos C. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005. 37:111-112.
42. 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.
43. Noso S, Ikegami H, Fujisawa T, Kawabata Y, Asano K, Hiromine Y, Tsurumaru M, Sugihara S, Lee I, Kawasaki E, et al. Genetic heterogeneity in association of SUMO4 M55V variant with susceptibility to type 1 diabetes. Diabetes 2005. 54:3582-3586. (Pubitemid 43334354)
44. Smyth DJ, Cooper JD, Bailey R, Field S, Burren O, Smink LJ, Guja C, Ionescu-Tirgoviste C, Widmer B, Dunger DB, 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. (Pubitemid 43927300)
45. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007. 39:857-864. (Pubitemid 47018195)
46. Hakonarson H, Qu HQ, Bradfield JP, Marchan L, Ki CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, et al. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 2008. 57:1143-1146.