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Association of CTLA4 gene A–G polymorphism with type 1 diabetes in Chinese children[Note 1. See commentary page 139. ...]
Author(s) -
Lee YannJinn,
Huang FuYuan,
Lo FuSung,
Wang WeiChu,
Hsu ChyongHsin,
Kao HsinAn,
Yang TzuYao,
Chang JanGowth
Publication year - 2000
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.2000.00929.x
Subject(s) - genotype , allele , type 2 diabetes , diabetes mellitus , polymorphism (computer science) , type 1 diabetes , medicine , endocrinology , population , gene polymorphism , genetics , gene , biology , environmental health
OBJECTIVE The CTLA4 (cytotoxic T lymphocyte associated antigen‐4) gene encodes the T cell receptor involved in the control of T cell proliferation and mediates T cell apoptosis. Thus it is a strong candidate gene for T cell‐mediated autoimmune disease. There is polymorphism at position 49 in exon 1 of the CTLA4 gene, providing a A–G exchange. This polymorphism is reportedly associated with type 1 diabetes in Caucasians but not in a small data set of Chinese. We wished to test this polymorphism in a larger and more homogeneous data set of Chinese children with type 1 diabetes and normal adult controls. DESIGN A population‐based case‐control study of a CTLA4 gene 49 A–G polymorphism was performed to look for an association with type 1 diabetes in Chinese children. PATIENTS We analysed this polymorphism in 253 unrelated children (128 boys) with type 1 diabetes (age at diagnosis 7.1 ± 3.7 years) and 91 randomly selected normal adults. All individuals were Han Chinese. RESULTS The genotype and gene frequencies of children with type 1 diabetes differed significantly from those of adult controls ( P = 0.0091 and P = 0.0051, respectively). Genotype CTLA4 49 G/G and G allele conferred a risk of type 1 diabetes (RR = 2.13, 95% CI = 1.31–3.46, P = 0.0022; RR = 1.68, 95% CI = 1.17–2.43, P = 0.0051, respectively). CONCLUSIONS This study demonstrates that CTLA4 49 A–G polymorphism is associated with type 1 diabetes in Han Chinese children. The CTLA4 49 G allele confers an increased risk of type 1 diabetes.