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. 2011 Aug 14;43(9):897-901.
doi: 10.1038/ng.898.

A genome-wide association study identifies two new risk loci for Graves' disease

Xun Chu  1 , Chun-Ming Pan, Shuang-Xia Zhao, Jun Liang, Guan-Qi Gao, Xiao-Mei Zhang, Guo-Yue Yuan, Chang-Gui Li, Li-Qiong Xue, Min Shen, Wei Liu, Fang Xie, Shao-Ying Yang, Hai-Feng Wang, Jing-Yi Shi, Wei-Wei Sun, Wen-Hua Du, Chun-Lin Zuo, Jin-Xiu Shi, Bing-Li Liu, Cui-Cui Guo, Ming Zhan, Zhao-Hui Gu, Xiao-Na Zhang, Fei Sun, Zhi-Quan Wang, Zhi-Yi Song, Cai-Yan Zou, Wei-Hua Sun, Ting Guo, Huang-Ming Cao, Jun-Hua Ma, Bing Han, Ping Li, He Jiang, Qiu-Hua Huang, Liming Liang, Li-Bin Liu, Gang Chen, Qing Su, Yong-De Peng, Jia-Jun Zhao, Guang Ning, Zhu Chen, Jia-Lun Chen, Sai-Juan Chen, Wei Huang, Huai-Dong Song; China Consortium for Genetics of Autoimmune Thyroid Disease
Affiliations

A genome-wide association study identifies two new risk loci for Graves' disease

Xun Chu et al. Nat Genet. .

Abstract

Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls. We further evaluated a group of associated SNPs in a second set of 3,994 cases and 3,510 controls. We confirmed four previously reported loci (in the major histocompatibility complex, TSHR, CTLA4 and FCRL3) and identified two new susceptibility loci (the RNASET2-FGFR1OP-CCR6 region at 6q27 (P(combined) = 6.85 × 10(-10) for rs9355610) and an intergenic region at 4p14 (P(combined) = 1.08 × 10(-13) for rs6832151)). These newly associated SNPs were correlated with the expression levels of RNASET2 at 6q27, of CHRNA9 and of a previously uncharacterized gene at 4p14, respectively. Moreover, we identified strong associations of TSHR and major histocompatibility complex class II variants with persistently TRAb-positive Graves' disease.

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