Genetic factors for human type 1 diabetes

Current Topics in Human Genetics: Studies in Complex Diseases

Volumn , Issue , 2007, Pages 693-706

  Wang, Cong Yi ^a   Han, Junyan ^a   She, Jin Xiong ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84967496009     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1142/9789812790811_00024     Document Type: Chapter

References (183)

1. Li M, Guo D, Isales CM, et al. (2005) SUMO wrestling with type 1 diabetes. J Mol Med 83:504-513.
2. She JX, Bui MM, Tian XH, et al. (1994) Additive susceptibility to insulindependent diabetes conferred by HLA-DQB1 and insulin genes. Autoimmunity 18:195-203.
3. She JX. (1996) Susceptibility to type I diabetes: HLA-DQ and DR revisited. Immunol Today 17:323-329.
4. She JX, Marron MP. (1998) Genetic susceptibility factors in type 1 diabetes:linkage, disequilibrium and functional analyses. Curr Opin Immunol 10:682-689.
5. Pugliese A, Gianani R, Moromisato R, et al. (1995) HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first-degree relatives of patients with IDDM. Diabetes 44:608-613.
6. Pugliese A, Eisenbarth GS. (2004) Type 1 diabetes mellitus of man: genetic susceptibility and resistance. Adv Exp Med Biol 552:170-203.
7. Hirschhorn JN. (2003) Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 4:87-100.
8. Atkinson MA. (2005) Thirty years of investigating the autoimmune basis for type 1 diabetes: why can’t we prevent or reverse this disease? Diabetes 54:1253-1263.
9. Pugliese A. (2004) Genetics of type 1 diabetes. Endocrinol Metab Clin North Am 33:1-16.
10. Nerup J, Platz P, Anderson OO, et al. (1974) HL-A antigens and diabetes mellitus. Lancet 2:864-866.
11. Valdes AM, Thomson G, Erlich HA, Noble JA. (1999) Association between type 1 diabetes age of onset and HLA among sibling pairs. Diabetes 48:1658-1661.
12. Demaine AG, Hibberd ML, Mangles D, Millward BA. (1995) A new marker in the HLA class I region is associated with the age at onset of IDDM. Diabetologia 38:623-628.
13. Fennessy M, Metcalfe K, Hitman GA, et al. (1994) A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population. Childhood Diabetes in Finland (DiMe) Study Group. Diabetologia 37:937-944.
14. Langholz B, Tuomilehto-Wolf E, Thomas D, et al. (1995) Variation in HLAassociated 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 12:441-453.
15. Honeyman MC, Harrison LC, Drummond B, et al. (1995) Analysis of families at risk for insulin-dependent diabetes mellitus reveals that HLA antigens influence progression to clinical disease. Mol Med 1:576-582.
16. Fujisawa T, Ikegami H, Kawaguchi Y, et al. (1995) Class I HLA is associated with age-at-onset of IDDM, while class II HLA confers susceptibility to IDDM. Diabetologia 38:1493-1495.
17. Pugliese A, Bugawan T, Moromisato R, et al. (1994) Two subsets of HLADQA1 alleles mark phenotypic variation in levels of insulin autoantibodies in first degree relatives at risk for insulin-dependent diabetes. J Clin Invest 93:2447-2452.
18. Bell GI, Horita S, Karam JH. (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176-183.
19. Lie BA, Todd JA, Pociot F, et al. (1999) 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.
20. Gambelunghe G, Ghaderi M, Cosentino A, et al. (2000) Association of MHC class I chain-related A (MIC-A) gene polymorphism with type I diabetes. Diabetologia 43:507-514.
21. Cox NJ, Bell GI, Xiang KS. (1988) Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II. Am J Hum Genet 43:495-501.
22. Deng GY, Muir A, Maclaren NK, She JX. (1995) Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulindependent diabetes mellitus: population and family studies. Am J Hum Genet 56:528-534.
23. Ronningen KS, Spurkland A, Iwe T, et al. (1991) Distribution of HLADRB1, -DQA1 and -DQB1 alleles and DQA1-DQB1 genotypes among Norwegian patients with insulin-dependent diabetes mellitus. Tissue Antigens 37:105-111.
24. Sanjeevi CB, Zeidler A, Shaw S, et al. (1993) Analysis of HLA-DQA1 and -DQB1 genes in Mexican Americans with insulin-dependent diabetes mellitus. Tissue Antigens 42:72-77.
25. Lee KH, Wucherpfennig KW, Wiley DC. (2001) Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes. Nat Immunol 2:501-507.
26. Nepom BS, Schwarz D, Palmer JP, Nepom GT. (1987) Transcomplementation of HLA genes in IDDM. HLA-DQ alpha- and beta-chains produce hybrid molecules in DR3/4 heterozygotes. Diabetes 36:114-117.
27. Tait BD, Mraz G, Harrison LC. (1988) Association of HLA-DQw3 (TA10-) with type I diabetes occurs with DR3/4 but not DR1/4 patients. Diabetes 37:926-929.
28. Nepom GT, Erlich H. (1991) MHC class-II molecules and autoimmunity. Annu Rev Immunol 9:493-525.
29. Kockum I, Wassmuth R, Holmberg E, et al. (1993) HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls. Am J Hum Genet 53:150-167.
30. Awata T, Kuzuya T, Matsuda A, et al. (1992) Genetic analysis of HLA class II alleles and susceptibility to type 1 (insulin-dependent) diabetes mellitus in Japanese subjects. Diabetologia 35:419-424.
31. Huang HS, Peng JT, She JY, et al. (1995) HLA-encoded susceptibility to insulin-dependent diabetes mellitus is determined by DR and DQ genes as well as their linkage disequilibria in a Chinese population. Hum Immunol 44:210-219.
32. Huang HS, Huang MJ, Huang CC. (1988) A strong association of HLADR 3/4 heterozygotes with insulin-dependent diabetes among Chinese in Taiwan. Taiwan Yi Xue Hui Za Zhi 87:1-6.
33. Lin LY, Hu C, Wang ZY, Hao ZP. (2004) Photocatalytic degradation of ethylene over titania-based photocatalysts. Huan Jing Ke Xue 25:105-108.
34. Koeleman BP, Lie BA, Undlien DE, et al. (2004) Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Genes Immun 5:381-388.
35. Hu CY, Allen M, Chuang LM, et al. (1993) Association of insulin-dependent diabetes mellitus in Taiwan with HLA class II DQB1 and DRB1 alleles. Hum Immunol 38:105-114.
36. Todd JA, Fukui Y, Kitagawa T, Sasazuki T. (1990) The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese. Proc Natl Acad Sci USA 87:1094-1098.
37. Penny MA, Jenkins D, Mijoric CH, et al. (1992) Susceptibility to IDDM in a Chinese population. Role of HLA class II alleles. Diabetes 41:914-919.
38. Todd JA, Mijoric C, Fletcher J, et al. (1989) Identification of susceptibility loci for insulin-dependent diabetes mellitus by trans-racial gene mapping. Nature 338:587-589.
39. Thorsby E, Ronningen KS. (1992) Role of HLA genes in predisposition to develop insulin-dependent diabetes mellitus. Ann Med 24:523-531.
40. Huang W, She JX, Muir A, et al. (1994) High risk HLA-DR/DQ genotypes for IDD confer susceptibility to autoantibodies but DQB1*0602 does not prevent them. J Autoimmun 7:889-897.
41. Erlich HA, Zeidler A, Chang J, et al. (1993) HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families. Nat Genet 3:358-364.
42. Cucca F, Lampis R, Frau F, et al. (1995) The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci. Hum Immunol 43:301-308.
43. Cucca F, Muntoni F, Lampis R, et al. (1993) Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum Immunol 37:85-94.
44. Baisch JM, Weeks T, Giles R, et al. (1990) Analysis of HLA-DQ genotypes and susceptibility in insulin-dependent diabetes mellitus. N Engl J Med 322:1836-1841.
45. Tait BD, Drummond BP, Varney MD, Harrison LC. (1995) HLADRB1* 0401 is associated with susceptibility to insulin-dependent diabetes mellitus independently of the DQB1 locus. Eur J Immunogenet 22:289-297.
46. Van der Auwera B, Van Waeyenbenge C, Schuit F, et al. (1995) DRB1*0403 protects against IDDM in Caucasians with the high-risk heterozygous DQA1*0301-DQB1*0302/DQA1*0501-DQB1*0201 genotype. Belgian Diabetes Registry. Diabetes 44:527-530.
47. Erlich HA, Zeidler A, Chang J, et al. (1993) HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families. Nat Genet 3:358-364.
48. Yasunaga S, Kimura A, Hamaguchi K, et al. (1996) Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulindependent diabetes mellitus (IDDM). Tissue Antigens 47:37-48.
49. Pociot F, McDermott MF. (2002) Genetics of type 1 diabetes mellitus. Genes Immun 3:235-249.
50. Julier C, Hyer RN, Davies J, et al. (1991) Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 354:155-159.
51. Bain SC, Prins JB, Hearne CM, et al. (1992) Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. Nat Genet 2:212-215.
52. Bell GI, Horita S, Karam JH. (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176-183.
53. Lucassen AM, Julier C, Beressi JP, et al. (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 4:305-310.
54. Owerbach D, Gabbay KH. (1996) The search for IDDM susceptibility genes:the next generation. Diabetes 45:544-551.
55. Heath VL, Moore NC, Parnell SM, Mason DW. (1998) Intrathymic expression of genes involved in organ specific autoimmune disease. J Autoimmun 11:309-318.
56. Bennett ST, Lucassen AM, Gough SC, et al. (1995) Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 9:284-292.
57. Owerbach D, Aagaard L. (1984) Analysis of a 1963-bp polymorphic region flanking the human insulin gene. Gene 32:475-479.
58. Rotwein P, Yokoyama S, Didier DK, Chirgwin JM. (1986) Genetic analysis of the hypervariable region flanking the human insulin gene. Am J Hum Genet 39:291-299.
59. Alleva DG, Crowe PD, Jin L, et al. (2001) A disease-associated cellular immune response in type 1 diabetics to an immunodominant epitope of insulin. J Clin Invest 107:173-180.
60. Wegmann DR, Norbury-Glaser M, Daniel D. (1994) Insulin-specific T cells are a predominant component of islet infiltrates in pre-diabetic NOD mice. Eur J Immunol 24:1853-1857.
61. Lucassen AM, Screaton GR, Julier C, et al. (1995) Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum Mol Genet 4:501-506.
62. Werdelin O, Cordes U, Jensen T. (1998) Aberrant expression of tissuespecific proteins in the thymus: a hypothesis for the development of central tolerance. Scand J Immunol 47:95-100.
63. Pugliese A, Brown D, Garza D, et al. (2001) Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs. J Clin Invest 107:555-564.
64. Sospedra M, Ferrer-Francesch X, Dominguez O, et al. (1998) Transcription of a broad range of self-antigens in human thymus suggests a role for central mechanisms in tolerance toward peripheral antigens. J Immunol 161:5918-5929.
65. Anjos S, Polychronakos C. (2004) Mechanisms of genetic susceptibility to type I diabetes: beyond HLA. Mol Genet Metab 81:187-195.
66. Pugliese A, Zeller M, Fernandez A Jr, et al. (1997) 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 15:293-297.
67. Vafiadis P, Bennett ST, Todd JA, et al. (1997) Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15:289-292.
68. Thebault-Baumont K, Dubois-Laforgue D, Krief P, et al. (2003) Acceleration of type 1 diabetes mellitus in proinsulin 2-deficient NOD mice. J Clin Invest 111:851-857.
69. French MB, Allison J, Cram DS, et al. (1997) Transgenic expression of mouse proinsulin II prevents diabetes in nonobese diabetic mice. Diabetes 46:34-39.
70. Gjorloff-Wingren A, Saxena M, Williams S, et al. (1999) Characterization of TCR-induced receptor-proximal signaling events negatively regulated by the protein tyrosine phosphatase PEP. Eur J Immunol 29:3845-3854.
71. Cohen S, Dadi H, Shaoul E, et al. (1999) Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 93:2013-2024.
72. Hasegawa K, Martin F, Huang G, et al. (2004) PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 303:685-689.
73. Hill RJ, Zozulya S, Lu YL, et al. (2002) The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation. Exp Hematol 30:237-244.
74. Bottini N, Musumeci L, Alonso A, et al. (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36:337-338.
75. Smyth D, Cooper JD, Collins JE, et al. (2004) 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 53:3020-3023.
76. Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P. (2004) A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 5:678-680.
77. Ladner MB, Bottini N, Valdes AM, Noble JA. (2005) Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 66:60-64.
78. Criswell LA, Pfeiffer KA, Lum RF, et al. (2005) 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 76:561-571.
79. Zheng W, She JX. (2005) Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 54:906-908.
80. Qu H, Tessier MC, Hudson TJ, Polychronakos C. (2005) Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet 42:266-270.
81. Gomez LM, Anaya JM, Gonzalez CI, et al. (2005) PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun 6:628-631.
82. Zhernakova A, Eerligh P, Wijmenga C, et al. (2005) Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population. Genes Immun 6:459-461.
83. Maier LM, Wicker LS. (2005) Genetic susceptibility to type 1 diabetes. Curr Opin Immunol 17:601-608.
84. Criswell LA, Pfeiffer KA, Lum RF, et al. (2005) 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 76:561-571.
85. Begovich AB, Carlton VE, Honigberg LA, et al. (2004) A missense singlenucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330-337.
86. Orozco G, Sanchez E, Gonzalez-Gay MA, et al. (2005) Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52:219-224.
87. Lee AT, Li W, Liew A, et al. (2005) The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes Immun 6:129-133.
88. Viken MK, Amundsen SS, Kvien TK, et al. (2005) Association analysis of the 1858C > T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 6:271-273.
89. Hinks A, Barton A, John S, et al. (2004) Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population:further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 52:1694-1699.
90. Simkins HM, Merriman ME, Highton J, et al. (2005) Association of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohort. Arthritis Rheum 52:2222-2225.
91. Carlton VE, Hu X, Chokkalingam AP, et al. (2005) PTPN22 genetic variation:evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 77:567-581.
92. Wesoly J, van der Helm-van Mil AH, Toes RE, et al. (2005) Association of the PTPN22 C1858T single-nucleotide polymorphism with rheumatoid arthritis phenotypes in an inception cohort. Arthritis Rheum 52:2948-2950.
93. Seldin MF, Shigeta R, Laiho K, et al. (2005) Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. Genes Immun 6:720-722.
94. Reddy MV, Johansson M, Sturfelt G, et al. (2005) The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 6:658-662.
95. Wu H, Cantor RM, Graham DS, et al. (2005) Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum 52:2396-2402.
96. Velaga MR, Wilson V, Jennings CE, et al. (2004) The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves’ disease. J Clin Endocrinol Metab 89:5862-5865.
97. Skorka A, Bednarczuk T, Bar-Andziak E, et al. (2005) Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves’ disease in a Polish population:association and gene dose-dependent correlation with age of onset. Clin Endocrinol (Oxf) 62:679-682.
98. Canton I, Akhtar S, Gavalas NG, et al. (2005) A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun 6:584-587.
99. Begovich AB, Caillier SJ, Alexander HC, et al. (2005) The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 76:184-187.
100. Matesanz F, Rueda B, Orozco G, et al. (2005) Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol 252:994-995.
101. Wagenleiter SE, Klein W, Griga T, et al. (2005) A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn’s disease. Int J Immunogenet 32:323-324.
102. van Oene M, Wintle RF, Liu X, et al. (2005) Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn’s disease, in Canadian populations. Arthritis Rheum 52:1993-1998.
103. Ittah M, Gottenberg JE, Proust A, et al. (2005) No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren’s syndrome. Genes Immun 6:457-458.
104. Martin MC, Oliver J, Urcelay E, et al. (2005) The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens 66:314-317.
105. Nistor I, Nair RP, Stuart P, et al. (2005) Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. J Invest Dermatol 125:395-396.
106. Rueda B, Nunez C, Orozco G, et al. (2005) C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol 66:848-852.
107. Mori M, Yamada R, Kobayashi K, et al. (2005) Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet 50:264-266.
108. Noso S. (2005) Genetic heterogeneity of SUMO4 M55V variant with susceptibility to type 1 diabetes. Diabetes 54:3582-3586.
109. Siminovitch KA. (2004) PTPN22 and autoimmune disease. Nat Genet 36:1248-1249.
110. Hasegawa K, Yajima H, Katagiri T, et al. (1999) Requirement of PEST domain tyrosine phosphatase PEP in B cell antigen receptor-induced growth arrest and apoptosis. Eur J Immunol 29:887-896.
111. Chien W, Tidow N, Williamson EA, et al. (2003) Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway. J Biol Chem 278:27413-27420.
112. Vang T, Congia M, Macis MD, et al. (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37:1317-1319.
113. Gregersen PK. (2005) Gaining insight into PTPN22 and autoimmunity. Nat Genet 37:1300-1302.
114. Davies JL, Kawaguchi Y, Bennett ST, et al. (1994) A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-136.
115. Luo DF, Buzzetti R, Rotter JI, et al. (1996) Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8. Hum Mol Genet 5:693-698.
116. Luo DF, Bui MM, Muir A, et al. (1995) Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am J Hum Genet 57:911-919.
117. Davies JL, Cucca F, Goy JV, et al. (1996) Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes. Hum Mol Genet 5:1071-1074.
118. Delepine M, Pociot F, Habita C, et al. (1997) Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 60:174-187.
119. Zhoucun A, Zhang S, Xiao C. (2001) Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population. Chin Med Sci J 16:120-122.
120. Guo D, Li M, Zhang Y, et al. (2004) A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat Genet 36:837-841.
121. Wang C, Podolsky R, She J. (2006) Genetic and functional evidence supporting SUMO4 as a type 1 diabetes susceptibility gene. Ann N Y Acad Sci 1079:257-267.
122. Park Y, Park S, Kang J, et al. (2005) Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 37:112-113.
123. Noso S, Ikegami H, Fujisawa T, et al. (2005) Genetic heterogeneity in association of the SUMO4 M55V variant with susceptibility to type 1 diabetes. Diabetes 54:3582-3586.
124. Owerbach D, Pina L, Gabbay KH. (2004) A 212-kb region on chromosome 6q25 containing the TAB2 gene is associated with susceptibility to type 1 diabetes. Diabetes 53:1890-1893.
125. Smyth DJ, Howson JM, Lowe CE, et al. (2005) Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 37:110-111.
126. Qu H, Bharaj B, Liu XQ, et al. (2005) Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 37:111-112.
127. Wang CY, Yang P, She JX. (2005) Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 37:112-113.
128. Bohren KM, Nadkarni V, Song JH, et al. (2004) A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus. J Biol Chem 279:27233-27238.
129. Guo D, Han J, Adam BL, et al. (2005) Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress. Biochem Biophys Res Commun 337:1308-1318.
130. Nistico L, Buzzetti R, Pritchard LE, et al. (1996) The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5:1075-1080.
131. Marron MP, Raffel LJ, Garchon HJ, et al. (1997) Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6:1275-1282.
132. Donner H, Rau H, Walfish PG, et al. (1997) CTLA4 alanine-17 confers genetic susceptibility to Graves’ disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 82:143-146.
133. Awata T, Kurihara S, Iitaka M, et al. (1998) Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulindepleted IDDM as well as autoimmune thyroid disease (Graves’ disease and Hashimoto’s thyroiditis) in the Japanese population. Diabetes 47:128-129.
134. Ueda H, Howson JM, Esposito L, et al. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506-511.
135. Anjos SM, Shao W, Marchand L, Polychronakos C. (2005) Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a reevaluation of the 3_ + 6230G > A polymorphism. Genes Immun 6:305-311.
136. Atabani SF, Thio CL, Divanovic S, et al. (2005) Association of CTLA4 polymorphism with regulatory T cell frequency. Eur J Immunol 35:2157-2162.
137. Magistrelli G, Jeannin P, Herbault N, et al. (1999) A soluble form of CTLA-4 generated by alternative splicing is expressed by nonstimulated human T cells. Eur J Immunol 29:3596-3602.
138. Oaks MK, Hallett KM, Penwell RT, et al. (2000) A native soluble form of CTLA-4. Cell Immunol 201:144-153.
139. Oaks MK, Hallett KM. (2000) Cutting edge: a soluble form of CTLA-4 in patients with autoimmune thyroid disease. J Immunol 164:5015-5018.
140. Liu MF, Wang CR, Chen PC, Fung LL. (2003) Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus. Scand J Immunol 57:568-572.
141. Wang XB, Kakoulidou M, Giscombe R, et al. (2002) Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol 130:224-232.
142. Purohit S, Podolsky R, Collins C, et al. (2005) Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes. J Autoimmune Dis 2:8.
143. Hashimoto L, Habita C, Beressi JP, et al. (1994) Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371:161-164.
144. Nakagawa Y, Kawaguchi Y, Twells RC, et al. (1998) Fine mapping of the diabetes-susceptibility locus, IDDM4, on chromosome 11q13. Am J Hum Genet 63:547-556.
145. Eckenrode S, Marron MP, Nicholls R, et al. (2000) 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 linkagedisequilibrium analyses. Hum Genet 106:14-18.
146. Owerbach D. (2000) Physical and genetic mapping of IDDM8 on chromosome 6q27. Diabetes 49:508-512.
147. Chistiakov DA, Seryogin YA, Turakulov RI, et al. (2005) Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set. J Autoimmun 24:243-250.
148. Field LL, Tobias R, Magnus T. (1994) A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 8:189-194.
149. Zamani M, Pociot F, Raeymaekers P, et al. (1996) Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population. Hum Genet 98:491-496.
150. Merriman T, Twells R, Merriman M, et al. (1997) Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21. Hum Mol Genet 6:1003-1010.
151. Merriman TR, Eaves IA, Twells RC, et al. (1998) 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 7: 517-524.
152. Esposito L, Hill NJ, Pritchard LE, et al. (1998) 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. Diabetes 47:1797-1799.
153. Kristiansen OP, Pociot F, Bennett EP, et al. (2000) IDDM7 links to insulindependent 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 15:295-296.
154. Cox NJ, Wapelhorst B, Morrison VA, et al. (2001) 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 69:820-830.
155. Paterson AD, Rahman P, Petronis A. (1999) IDDM9 and a locus for rheumatoid arthritis on chromosome 3q appear to be distinct. Hum Immunol 60:883-885.
156. Reed P, Cucca F, Jenkins S, et al. (1997) Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. Hum Mol Genet 6:1011-1016.
157. Chistiakov DA, Seryogin Y, Savost’anov KV, et al. (2004) Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population. Scand J Immunol 60:316-323.
158. Field LL, Tobias R, Thomson G, Plon S. (1996) Susceptibility to insulindependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics 33:1-8.
159. Corder EH, Woodbury MA, Manton KG, Field LL. (2001) Grade-ofmembership sibpair linkage analysis maps IDDM11 to chromosome 14q24.3- q31. Ann Hum Genet 65:387-394.
160. Fu J, Ikegami H, Kawaguchi Y, et al. (1998) Association of distal chromosome 2q with IDDM in Japanese subjects. Diabetologia 41:228-232.
161. Concannon P, Gogolin-Ewens KJ, Hinds DA, et al. (1998) A secondgeneration screen of the human genome for susceptibility to insulindependent diabetes mellitus. Nat Genet 19:292-296.
162. Field LL, Larsen Z, Pociot F, et al. (2002) Evidence for a locus (IDDM16) in the immunoglobulin heavy chain region on chromosome 14q32.3 producing susceptibility to type 1 diabetes. Genes Immun 3:338-344.
163. Eller E, Vardi P, Daly MJ, et al. (2004) IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family. Ann NY Acad Sci 1037:145-149.
164. Morahan G, Huang D, Ymer SI, et al. (2001) Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat Genet 27:218-221.
165. Bergholdt R, Ghandil P, Johannesen J, et al. (2004) Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes. J Med Genet 41:e39.
166. Rowe RE, Wapelhorst B, Bell GI, et al. (1995) Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Nat Genet 10:240-242.
167. Ewens KG, Johnson LN, Wapelhorst B, et al. (2002) Linkage and association with type 1 diabetes on chromosome 1q42. Diabetes 51:3318-3325.
168. Kristiansen OP, Larsen ZM, Johannasen J, et al. (1999) No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood. Hum Mutat 14:67-70.
169. Zavattari P, Esposito L, Nutland S, et al. (2000) Transmission-ratio distortion at Xp11.4-p21.1 in type 1 diabetes. Am J Hum Genet 66:330-332.
170. Nerup J, Pociot F. (2001) A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 69:1301-1313.
171. Sale MM, FitzGerald LM, Charlesworth JC, et al. (2002) Evidence for a novel type 1 diabetes susceptibility locus on chromosome 8. Diabetes 51 (Suppl 3):S316-S319.
172. Concannon P, Erlich HA, Julier C, et al. (2005) Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 54:2995-3001.
173. Cox NJ, Wapelhorst B, Morrison VA, et al. (2001) 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 69:820-830.
174. Terwilliger JD, Weiss KM. (1998) Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr Opin Biotechnol 9:578-594.
175. Weiss KM, Terwilliger JD. (2000) How many diseases does it take to map a gene with SNPs? Nat Genet 26:151-157.
176. Conde L, Vaquerizas JM, Santoyo J, et al. (2004) PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res 32:W242-W248.
177. Sunyaev S, Ramensky V, Koch I, et al. (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597.
178. Risch N, Merikangas K. (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517.
179. Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. (2004) Mapping complex disease loci in whole-genome association studies. Nature 429:446-452.
180. Risch NJ. (2000) Searching for genetic determinants in the new millennium. Nature 405:847-856.
181. Cardon LR, Bell JI. (2001) Association study designs for complex diseases. Nat Rev Genet 2:91-99.
182. Marchini J, Donnelly P, Cardon LR. (2005) Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 37:413-417.
183. Tabor HK, Risch NJ, Myers RM. (2002) Opinion: candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 3:391-397.