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Dense mapping of IL 2 RA shows no association with Graves' disease in Chinese Han population
Author(s) -
Song ZhiYi,
Liu Wei,
Xue LiQiong,
Pan ChunMing,
Wang HaiNing,
Gu ZhaoHui,
Yang ShaoYing,
Cao HuangMing,
Zuo ChunLin,
Zhang XiaoNa,
Jiang He,
Liu BingLi,
Bi YaXin,
Zhang XiaoMei,
Zhao ShuangXia,
Song HuaiDong
Publication year - 2013
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 - 10.1111/cen.12115
Subject(s) - medicine , endocrinology , association (psychology) , chinese population , population , disease , immunology , biology , gene , psychology , genetics , genotype , environmental health , psychotherapist
Summary Objective Associations between IL 2 RA and various autoimmune diseases have been reported in Caucasians. We investigated whether genetic polymorphisms at the IL 2 RA locus were associated with Graves' disease ( GD ) in the Chinese Han population. Design We performed a genome‐wide association study ( GWAS ) in 1 536 GD patients and 1 516 controls. The 1000 Genomes Project data were adopted as references for imputation analysis. After forward and conditional logistic regressions, we found that rs11256313 was the major risk variant in the CD 25/ IL 2 RA region. Thus, we further genotyped rs11256313 in a replication cohort with 3 694 GD patients and 3 510 controls using ABI 7900 HT TaqMan Real‐Time PCR System. Results Nine single nucleotide polymorphisms ( SNP s) in the IL 2 RA block were nominally associated with GD in our GWAS (0·01 < P < 0·05). After imputation analysis, 13 imputed SNP s in the IL 2 RA block were weakly associated with GD ( P ≤ 0·05). Logistic regression analysis suggested that the imputed rs11256313 could represent the IL 2 RA block ( P = 0·003). However, we failed to replicate the association of rs11256313 in a larger cohort ( P = 0·145). A subphenotype analysis of rs11256313 on thyroid hormone receptor antibody ( TRA b) and gender showed that there was no association in any of the subphenotype groups ( P > 0·05). Conclusions The results suggested that common genetic polymorphisms at IL 2 RA do not exert a significant genetic effect on the development of GD in the Chinese Han population. Previously reported associations between CD 25/ IL 2 RA and autoimmune diseases including GD in Caucasians again imply that heterogeneity exists in different ethnic populations.