Association between cytotoxic T lymphocyte antigen-4 polymorphism and type 1 diabetes: A meta-analysis

Gene

Volumn 516, Issue 2, 2013, Pages 263-270

  Chen, Zixian ^a   Fei, Min ^a   Fu, Da ^a   Zhang, Liang ^a   Ma, Yushui ^a   Wang, Yichao ^a   Zhang, Feng ^a   Xia, Qing ^a   Wang, Xiaofeng ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

CTLA4; Meta analysis; Polymorphism; Type 1 diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4;

ALLELE; ARTICLE; ETHNICITY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SAMPLE SIZE;

CTLA-4 ANTIGEN; DIABETES MELLITUS, TYPE 1; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84873274134     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.030     Document Type: Article

References (75)

1. Abe T., et al. CTLA4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese type 1 diabetes. Diabetes Res. Clin. Pract. 1999, 46:169-175.
2. Ahmedov G., et al. Genetic association of type 1 diabetes in an Azerbaijanian population: the HLA-DQ, -DRB1*04, the insulin gene, and CTLA4. Pediatr. Diabetes 2006, 7:88-93.
3. Atkinson M.A., Maclaren N.K. The pathogenesis of insulin-dependent diabetes mellitus. N. Engl. J. Med. 1994, 331:1428-1436.
4. Awata T., 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. Diabetes 1998, 47:128-129.
5. Balic I., et al. Association of CTLA-4 polymorphisms and clinical-immunologic characteristics at onset of type 1 diabetes mellitus in children. Hum. Immunol. 2009, 70:116-120.
6. Baniasadi V., et al. Promoter region -318 C/T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians. Tissue Antigens 2006, 67:383-389.
7. Begg C.B., Mazumdar M. Operating characteristics of a bank correlation test for publication bias. Biometrics 1994, 50:1088-1101.
8. Benmansour J., et al. Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians. Clin. Vaccine Immunol. 2010, 17:1473-1477.
9. Bouqbis L., et al. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population. Genes Immun. 2003, 4:132-137.
10. Butty V., et al. Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). Diabetes 2008, 57:2348-2359.
11. Caputo M., et al. Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA). Autoimmunity 2005, 38:277-281.
12. Cinek O., et al. The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children. Eur. J. Immunogenet. 2002, 29:219-222.
13. Cosentino A., et al. CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults. Ann. N. Y. Acad. Sci. 2002, 958:337-340.
14. DerSimonian R., Laird N. Meta-analysis in clinical trials. Control. Clin. Trials 1896, 7:177-188.
15. Djilali-Saiah I., et al. No major role for the CTLA-4 gene in the association of autoimmune thyroid disease with IDDM. Diabetes 1998, 47:125-127.
16. Donner H., et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J. Clin. Endocrinol. Metab. 1997, 82:143-146.
17. Douroudis K., et al. Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates. Hum. Immunol. 2009, 70:536-539.
18. Easterbrook P.J., et al. Publication bias in clinical research. Lancet 1991, 337:867-872.
19. Egger M., Smith G.D., Schneider M., Minder C. Bias in meta-analysis detected by a simple, graphical test. Br. Med. J. 1997, 315:629-634.
20. Ei Wafai R.J., et al. Association of HLA class II alleles and CTLA-4 polymorphism with type 1 diabetes. Saudi J. Kidney Dis. Transpl. 2011, 22:273-281.
21. Eisenbarth G.S. Type 1 diabetes mellitus. A chronic autoimmune disease. N. Engl. J. Med. 1986, 314:1360-1368.
22. Fajardy I., et al. CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect. Eur. J. Immunogenet. 2002, 29:251-257.
23. Field L.L. Genetic linkage and association studies of type 1 diabetes: challenges and rewards. Diabetologia 2002, 45:21-35.
24. Genc S., et al. Analysis of cytotoxic T lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism in patients with type 1 diabetes mellitus in a Turkish population. J. Pediatr. Endocrinol. Metab. 2004, 17:731-735.
25. Haller K., et al. Type 1 diabetes is insulin -2221 MspI and CTLA-4 +49 A/G polymorphism dependent. Eur. J. Clin. Invest. 2004, 34:543-548.
26. Haller K., et al. Insulin gene VNTR, CTLA-4 +49A/G and HLA-DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 diabetes group. Tissue Antigens 2007, 69:121-127.
27. Hayashi H., et al. Association of CTLA-4 polymorphism with positive anti-GAD antibody in Japanese subjects with type 1 diabetes mellitus. Clin. Endocrinol. (Oxf) 1999, 51:793-799.
28. Higgins J.P., Thompson S.G. Quantifying heterogeneity in a meta-analysis. Stat. Med. 2002, 21:1539-1558.
29. Horie I., et al. Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. J. Clin. Endocrinol. Metab. 2012, 97:E1043-E1050.
30. Ide A., et al. Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes. J. Autoimmun. 2004, 22:73-78.
31. Ihara K., et al. Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population. Immunogenetics 2001, 53:447-454.
32. Ikegami H., et al. The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multicenter collaborative study in Japan. J. Clin. Endocrinol. Metab. 2006, 91:1087-1092.
33. Ioannidis J.P., et al. Genetic associations in large versus small studies: an empirical assessment. Lancet 2003, 361:567-571.
34. Jin P., et al. Association of CTLA-4 + 49A/G and CT60 gene polymorphism with type 1 diabetes and thyroid autoimmunity. Zhonghua Yi Xue Za Zhi 2009, 89:1246-1249.
35. Jung M.H., et al. Association of cytotoxic T lymphocyte antigen-4 gene polymorphisms and HLA class II alleles with the development of type 1 diabetes in Korean children and adolescents. J. Korean Med. Sci. 2009, 24:1004-1009.
36. Kamoun Abid H., et al. Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population. Pathol. Biol. (Paris) 2001, 49:794-798.
37. Kavvoura F.K., Ioannidis J.P. CTLA-4 gene polymorphisms and susceptibility to type 1 diabetes mellitus: a HuGE Review and meta-analysis. Am. J. Epidemiol. 2005, 162:3-16.
38. Kawasaki E., et al. Differences in the contribution of the CTLA4 gene to susceptibility to fulminant and type 1A diabetes in Japanese patients. Diabetes Care 2008, 31:1608-1610.
39. Kikuoka N., et al. Cytotoxic T lymphocyte antigen 4 gene polymorphism confers susceptibility to type 1 diabetes in Japanese children: analysis of association with HLA genotypes and autoantibodies. Clin. Endocrinol. (Oxf) 2001, 55:597-603.
40. Klitz W., et al. Association of CTLA-4 variation with type I diabetes in Filipinos. Immunogenetics 2002, 54:310-313.
41. Korolija M., et al. Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with type 1 diabetes in Croatians. Diabetes Res. Clin. Pract. 2009, 86:e54-e57.
42. Krokowski M., et al. CTLA-4 gene polymorphism is associated with predisposition to IDDM in a population from central Poland. Diabetes Metab. 1998, 24:241-243.
43. Lane P. Regulation of T and B cell responses by modulating inter-actions between CD28/CTLA4 and their ligands, CD80 and CD86. Ann. N. Y. Acad. Sci. 1997, 815:392-400.
44. Lee Y.J., et al. Association of CTLA4 gene A-G polymorphism with type 1 diabetes in Chinese children. Clin. Endocrinol. (Oxf) 2000, 52:153-157.
45. Lemos M.C., et al. The CTLA4 +49 A/G polymorphism is not associated with susceptibility to type 1 diabetes mellitus in the Portuguese population. Int. J. Immunogenet. 2009, 36:193-195.
46. Liang H., et al. Association between CTLA-4 +49 A/G polymorphism and type 1B diabetes in Japanese population. Endocrine 2004, 25:105-109.
47. Lohmueller K.E., Pearce C.L., Pike M., Lander E.S., Hirschhorn J.N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 2003, 33:177-182.
48. Ma Y., et al. CTLA-4 gene A/G polymorphism associated with diabetes mellitus in Han Chinese. Chin. Med. J. (Engl) 2002, 115:1248-1250.
49. McCormack R.M., et al. Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population. Genes Immun. 2001, 2:233-235.
50. McCoy K., Camberis M., Gros G.L. Protective immunity to nematode infection is induced by CTLA-4 blockade. J. Exp. Med. 1997, 186:183-187.
51. Mochizuki M., et al. Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disease in Japanese children. Diabetes Care 2003, 26:843-847.
52. Mojtahedi Z., et al. CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians. Diabetes Res. Clin. Pract. 2005, 68:111-116.
53. Momin S., et al. Interactions between programmed death 1 (PD-1) and cytotoxic T lymphocyte antigen 4 (CTLA-4) gene polymorphisms in type 1 diabetes. Diabetes Res. Clin. Pract. 2009, 83:289-294.
54. Morgan T.M., Coffey C.S., Krumholz H.M. Overestimation of genetic risks owing to small sample sizes in cardiovascular studies. Clin. Genet. 2003, 64:7-17.
55. Mosaad Y.M., Elsharkawy A.A., El-Deek B.S. Association of CTLA-4 (+49A/G) gene polymorphism with type 1 diabetes mellitus in Egyptian children. Immunol. Invest. 2012, 41:28-37.
56. Nejentsev S., et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 2007, 450:887-892.
57. Nistico L., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum. Mol. Genet. 1996, 5:1075-1080.
58. Oaks M.K., Hallett K.M., Penwell R.T., Stauber E.C., Warren S.J., Tector A.J. A native soluble form of CTLA-4. Cell. Immunol. 2000, 201:144-153.
59. Ongagna J.C., et al. Markers for risk of type 1 diabetes in relatives of Alsacian patients with type 1 diabetes. Int. J. Exp. Diabetes Res. 2002, 3:1-9.
60. Osei-Hyiaman D., et al. Association of a novel point mutation (C159G) of the CTLA4 gene with type 1 diabetes in West Africans but not in Chinese. Diabetes 2001, 50:2169-2171.
61. Philip B., Isabel W. Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India. Indian J. Hum. Genet. 2011, 17:85-89.
62. Reddy M.V., et al. Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Genes Immun. 2011, 12:208-212.
63. Saleh H.M., et al. The CTLA4-819 C/T and +49 A/G dimorphisms are associated with Type 1 diabetes in Egyptian children. Indian J. Hum. Genet. 2008, 14:92-98.
64. Takara M., et al. Association of CTLA-4 gene A/G polymorphism in Japanese type 1 diabetic patients with younger age of onset and autoimmune thyroid disease. Diabetes Care 2000, 23:975-978.
65. Todd J.A., et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet. 2007, 39:857-864.
66. Turpeinen H., et al. A linkage analysis of the CTLA-4 gene region in Finnish patients with type 1 diabetes. Eur. J. Immunogenet. 2003, 30:289-293.
67. Vaarala O., Atkinson M.A., Neu J. The "perfect storm" for type 1 diabetes: the complex interplay between intestinal microbiota, gut permeability, and mucosal immunity. Diabetes 2008, 57:2555-2562.
68. Vaidya B., Pearce S. The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. Eur. J. Endocrinol. 2004, 150:619-626.
69. Van der Auwera B.J., et al. CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immune disease markers. The Belgian Diabetes Registry. Clin. Exp. Immunol. 1997, 110:98-103.
70. Walunas T.L., Bakker C.Y., Bluestone J.A. CTLA4 ligation blocks CD28-dependent T cell activation. J. Exp. Med. 1996, 183:2541-2550.
71. Waterhouse P., et al. Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science 1995, 270:985-988.
72. Wood J.P., et al. A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes. Eur. J. Immunogenet. 2002, 29:347-349.
73. Woolf B. On estimating the relation between blood group and disease. Ann. Hum. Genet. 1955, 19:251-253.
74. Yanagawa T., et al. Lack of association between CTLA-4 gene polymorphism and IDDM in Japanese subjects. Autoimmunity 1999, 29:53-56.
75. Zalloua P.A., et al. Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. Hum. Immunol. 2004, 65:719-724.