Genetics of Type 1 Diabetes and Autoimmune Thyroid Disease

Endocrinology and Metabolism Clinics of North America

Volumn 38, Issue 2, 2009, Pages 289-301

  Pearce, Simon H S ^a   Merriman, Tony R ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Autoimmunity; Genome wide association; Genomics; Grave's disease; Type 1 diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INSULIN; INTERLEUKIN 2 RECEPTOR ALPHA; LYMPHOID TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

AUTOIMMUNE DISEASE; AUTOIMMUNE THYROID DISEASE; AUTOIMMUNITY; DNA POLYMORPHISM; GENE LOCUS; GENETIC EPIDEMIOLOGY; GENETIC SUSCEPTIBILITY; GRAVES DISEASE; HUMAN; HYPOTHYROIDISM; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR HISTOCOMPATIBILITY COMPLEX; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; THYROID DISEASE;

DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; THYROIDITIS, AUTOIMMUNE;

EID: 62849101614     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2009.01.012     Document Type: Review

References (80)

1. Leese G.P., Flynn R.V., Jung R.T., et al. Increasing prevalence and incidence of thyroid disease in Tayside, Scotland: the Thyroid Epidemiology Audit Research Study. Clin Endocrinol (Oxf) 68 2 (2008) 311-316
2. Eurodiab Ace Study Group. Variation and trends in incidence of childhood diabetes in Europe. Lancet 355 9207 (2000) 873-876
3. Lander E.S., and Schork N.J. Genetic dissection of complex traits. Science 265 5184 (1994) 2037-2048
4. Grumet F.C., Payne R.O., Konishi J., et al. HLA antigens as markers for disease susceptibility and autoimmunity in Graves' disease. J Clin Endocrinol Metab 39 6 (1974) 1115-1119
5. Schernthaner G., Ludwig H., and Mayr W.R. Juvenile diabetes mellitus: HLA-antigen frequencies dependent on the age of onset of the disease. J Immunogenet 3 2 (1976) 117-121
6. Pearce S.H., and Merriman T.R. Genetic progress towards the molecular basis of autoimmunity. Trends Mol Med 12 2 (2006) 90-98
7. Tillil H., and Köbberling J. Age-corrected empirical genetic risk estimates for first-degree relatives of IDDM patients. Diabetes 36 1 (1987) 93-99
8. Vaidya B., Kendall-Taylor P., and Pearce S.H. The genetics of autoimmune thyroid disease. J Clin Endocrinol Metab 87 12 (2002) 5385-5397
9. Brix T.H., Kyvik K.O., Christensen K., et al. Evidence for a major role of heredity in Graves' disease: a population-based study of two Danish twin cohorts. J Clin Endocrinol Metab 86 2 (2001) 930-934
10. Kyvik K.O., Green A., and Beck-Nielsen H. Concordance rates of insulin dependent diabetes mellitus: a population based study of young Danish twins. BMJ 311 7010 (1995) 913-917
11. Vyse T.J., and Todd J.A. Genetic analysis of autoimmune disease. Cell 85 3 (1996) 311-318
12. el-Hashimy M., Angelico M.C., Martin B.C., et al. Factors modifying the risk of IDDM in offspring of an IDDM parent. Diabetes 44 3 (1995) 295-299
13. Torfs C.P., King M.C., Huey B., et al. Genetic interrelationship between insulin-dependent diabetes mellitus, the autoimmune thyroid diseases, and rheumatoid arthritis. Am J Hum Genet 38 2 (1986) 170-187
14. Payami H., Joe S., and Thomson G. Autoimmune thyroid disease in type 1 diabetic families. Genet Epidemiol 6 1 (1989) 137-141
15. Somers E.C., Thomas S.L., Smeeth L., et al. Autoimmune diseases co-occurring within individuals and within families: a systematic review. Epidemiology 17 2 (2006) 202-217
16. Nejentsev S., Howson J.M., Walker N.M., et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 450 7171 (2007) 887-892
17. Erlich H., Valdes A.M., Noble J., et al. HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes 57 4 (2008) 1084-1092
18. Farid N.R., Sampson L., Noel E.P., et al. A study of human leukocyte D locus related antigens in Graves' disease. J Clin Invest 63 1 (1979) 108-113
19. Tandon N., Zhang L., and Weetman A.P. HLA associations with Hashimoto's thyroiditis. Clin Endocrinol 34 5 (1991) 383-386
20. Simmonds M.J., Howson J.M., Heward J.M., et al. A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Hum Mol Genet 16 18 (2007) 2149-2153
21. Lieberman S.M., and DiLorenzo T.P. A comprehensive guide to antibody and T-cell responses in type 1 diabetes. Tissue Antigens 62 5 (2003) 359-377
22. Vang T., Congia M., Macis M.D., et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain of function variant. Nat Genet 37 12 (2005) 1317-1319
23. Bottini N., Musumeci L., Alonso A., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36 4 (2004) 337-338
24. Velaga M.R., Wilson V., Jennings C.E., et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89 11 (2004) 5862-5865
25. Smyth D., Cooper J.D., Collins J.E., et al. 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 53 11 (2004) 3020-3023
26. Smyth D.J., Cooper J.D., Howson J.M., et al. PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. Diabetes 57 6 (2008) 1730-1737
27. Gregersen P.K., Lee H.S., Batliwalla F., et al. PTPN22: setting thresholds for autoimmunity. Semin Immunol 18 4 (2006) 214-223
28. Gough S.C., Walker L.S., and Sansom D.M. CTLA4 gene polymorphism and autoimmunity. Immunol Rev 204 4 (2005) 102-115
29. Yanagawa T., Hidaka Y., Guimaraes V., et al. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab 80 1 (1995) 41-45
30. Vaidya B., and Pearce S.H.S. The emerging role of the CTLA4 gene in autoimmune endocrinopathies. Eur J Endocrinol 150 5 (2004) 619-626
31. Nisticò L., Buzzetti R., Pritchard L.E., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Hum Mol Genet 5 7 (1996) 1075-1080
32. Ueda H., Howson J.M., Esposito L., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423 6939 (2003) 506-511
33. Anjos S.M., Shao W., Marchand L., et al. Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′+6230G > A polymorphism. Genes Immun 6 4 (2005) 305-311
34. Atabani S.F., Thio C.L., Divanovic S., et al. Association of CTLA4 polymorphism with regulatory T cell frequency. Eur J Immunol 35 7 (2005) 2157-2162
35. Cunninghame-Graham D.S., Wong A.K., McHugh N.J., et al. Evidence for unique association signals in SLE at the CD28-CTLA4-ICOS locus in a family-based study. Hum Mol Genet 15 21 (2006) 3195-3205
36. Vella A., Cooper J.D., Lowe C.E., et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 76 5 (2005) 773-779
37. Brand O.J., Lowe C.E., Heward J.M., et al. Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs. Clin Endocrinol (Oxf) 66 4 (2007) 508-512
38. Qu H.Q., Montpetit A., Ge B., et al. Toward further mapping of the association between the IL2RA locus and type 1 diabetes. Diabetes 56 4 (2007) 1174-1176
39. Lowe C.E., Cooper J.D., Brusko T., et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 39 9 (2007) 1074-1082
40. Smyth D.J., Cooper J.D., Bailey R., 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 38 6 (2006) 617-619
41. Sutherland A., Davies J., Owen C.J., et al. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. J Clin Endocrinol Metab 92 8 (2007) 3338-3341
42. Qu H.Q., Marchand L., Grabs R., et al. The association between the IFIH1 locus and type 1 diabetes. Diabetologia 51 3 (2008) 473-475
43. Hiratani H., Bowden D.W., Ikegami S., et al. Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. J Clin Endocrinol Metab 90 5 (2005) 2898-2903
44. Dechairo B.M., Zabaneh D., Collins J., et al. Association of the TSHR gene with Graves' disease: the first disease-specific locus. Eur J Hum Genet 13 11 (2005) 1223-1230
45. Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium, Burton P.R., et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39 11 (2007) 1329-1337
46. Ban Y., Greenberg D.A., Concepcion E., et al. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci U S A 100 25 (2003) 15119-15124
47. Collins J.E., Heward J.M., Carr-Smith J., et al. Association of rare thyroglobulin gene microsatellite variants with autoimmune thyroid disease. J Clin Endocrinol Metab 88 10 (2003) 5039-5042
48. Collins J.E., Heward J.M., Howson J.M., et al. Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. J Clin Endocrinol Metab 89 12 (2004) 6336-6339
49. Capon F., Semprini S., Chimenti S., et al. Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol 116 5 (2001) 728-730
50. Kochi Y., Yamada R., Suzuki A., et al. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet 37 5 (2005) 478-485
51. Simmonds M.J., Heward J.M., Carr-Smith J., et al. Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. J Clin Endocrinol Metab 91 3 (2006) 1056-1061
52. Owen C.J., Kelly H., Eden J.A., et al. Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association. J Clin Endocrinol Metab 92 3 (2007) 1106-1111
53. Smyth D.J., Howson J.M., Payne F., et al. Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. BMC Med Genet 7 3 (2006) 20
54. Duchatelet S., Caillat-Zucman S., Dubois-Laforgue D., et al. FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits. Biomed Pharmacother 62 3 (2008) 153-157
55. Tomer Y., Concepcion E., and Greenberg D.A. A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12 12 (2002) 1129-1135
56. Ban Y., Tozaki T., Taniyama M., et al. Association of a C/T single-nucleotide polymorphism in the 5′ untranslated region of the CD40 gene with Graves' disease in Japanese. Thyroid 16 5 (2006) 443-446
57. Heward J.M., Simmonds M.J., Carr-Smith J., et al. A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clin Endocrinol (Oxf) 61 2 (2004) 269-272
58. Houston F.A., Wilson V., Jennings C.E., et al. Role of the CD40 locus in Graves' disease. Thyroid 14 7 (2004) 506-509
59. Simmonds M.J., Heward J.M., Franklyn J.A., et al. The CD40 Kozak SNP: a new susceptibility loci for Graves' disease?. Clin Endocrinol 63 2 (2005) 232-233
60. Barratt B.J., Payne F., Lowe C.E., et al. Remapping the insulin gene/IDDM2 locus in type 1 diabetes. Diabetes 53 7 (2004) 1884-1889
61. Vafiadis P., Bennett S.T., Todd J.A., et al. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15 3 (1997) 289-292
62. Chentoufi A.A., and 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. Diabetes 51 5 (2002) 1383-1390
63. Vafiadis P., Bennett S.T., Colle E., et al. Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. J Autoimmun 9 3 (1996) 397-403
64. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared control. Nature 447 7145 (2007) 661-678
65. Hakonarson H., Grant S.F., Bradfield J.P., et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 448 7153 (2007) 591-594
66. Hakonarson H., Qu H.Q., Bradfield J.P., et al. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 10.2337/db07-1305
67. Todd J.A., Walker N.M., Cooper J.D., et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39 7 (2007) 857-864
68. Hugot J.P., Chamaillard M., Zouali H., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411 6837 (2001) 599-603
69. Ogura Y., Bonen D.K., Inohara N., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411 6837 (2001) 603-606
70. Mein C.A., Esposito L., Dunn M.G., et al. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 19 3 (1998) 297-300
71. Taylor J.C., Gough S.C., Hunt P.J., et al. A Genome-wide screen in 1119 relative pairs with autoimmune thyroid disease. J Clin Endocrinol Metab 91 2 (2006) 646-653
72. Terwilliger J.D., and Hiekkalinna T. An utter refutation of the "Fundamental theorem of the HapMap". Eur J Hum Genet 14 4 (2006) 426-437
73. McKinney C., Merriman M.E., Chapman P.T., et al. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 67 3 (2008) 409-413
74. Daly M.J., and Altshuler D. Partners in crime. Nat Genet 37 4 (2005) 337-338
75. Zhang Y., and Liu J.S. Bayesian inference of epistatic interactions in case-control studies. Nat Genet 39 9 (2007) 1167-1173
76. Redon R., Ishikawa S., Fitch K.R., et al. Global variation in copy number in the human genome. Nature 444 7118 (2006) 444-454
77. Gonzalez E., Kulkarni H., Bolivar H., et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307 5714 (2005) 1434-1440
78. Aitman T.J., Dong R., Vyse T.J., et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439 7078 (2006) 851-855
79. Fanciulli M., Norsworthy P.J., Petretto E., et al. FCGR3B copy number variation is associated with susceptibility to systemic but not organ-specific autoimmunity. Nat Genet 39 6 (2007) 721-723
80. Xiao Yu X., Sun J.-P., He Y., et al. Structure, inhibitor, and regulatory mechanism of a lymphoid-specific tyrosine phosphatase implicated in autoimmune diseases. Proc Natl Acad Sci U S A 104 50 (2007) 19767-19772