NDLI: Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study

Content Provider	Springer Nature Link
Author	Liu, Wei Wang, Hai Ning Gu, Zhao Hui Yang, Shao Ying Ye, Xiao Ping Pan, Chun Ming Zhao, Shuang Xia Xue, Li Qiong Xie, Hui Jun Yu, Sha Sha Guo, Cui Cui Du, Wen Hua Liang, Jun Zhang, Xiao Mei Yuan, Guo Yue Li, Chang Gui Su, Qing Gao, Guan Qi Song, Huai Dong
Copyright Year	2013
Abstract	The BACH2 gene regulates B cell differentiation and function and has been reported to be a shared susceptibility gene for several autoimmune diseases. Our previous genome-wide association study (GWAS) indicated that several single nucleotide polymorphisms (SNPs) in the BACH2 gene are associated with Graves’ disease (GD) in the Chinese Han population; however, the association did not achieve genome-wide significance levels. Recently, this association of BACH2 with GD was confirmed in Caucasians in the UK population, but fine mapping in this region has not yet been reported. Here, we provide a refined analysis of a 331-kb region in the BACH2 gene, which harbors 359 SNPs, using GWAS data from 1,442 GD patients and 1,468 controls. The SNPs rs2474619 and rs9344996 were implied as the independent variants associated with GD by forward and two-locus logistic regression analysis. We genotyped eight out of 10 tagSNPs with P < 1 × 10−3 in 3,508 GD patients and 3,209 controls, the results also showed that rs2474619 was independently associated with GD in the combined population from GWAS and the second stage (P = 1.81 × 10−5). The rs2474619 and rs9344996 were further genotyped in the third stage cohorts, and rs2474619 showed evidence of association with GD at genome-wide significance levels in the combined population (P = 3.28 × 10−8, odds ratio = 1.13). The association of rs9344996 with GD can be explained by its linkage to rs2474619 in the combined population. Our study clearly demonstrated that BACH2 is a susceptibility gene for GD in the Chinese Han population and further supported rs2474619, in intron 2 of BACH2, is the best association signal with GD. However, the mechanism by which BACH2 confers increased risk of GD requires further study.
Starting Page	661
Ending Page	671
Page Count	11
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	133
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2013-12-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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