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- Title
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
- Authors
Zhao, Shuang-Xia; Xue, Li-Qiong; Liu, Wei; Gu, Zhao-Hui; Pan, Chun-Ming; Yang, Shao-Ying; Zhan, Ming; Wang, Hai-Ning; Liang, Jun; Gao, Guan-Qi; Zhang, Xiao-Mei; Yuan, Guo-Yue; Li, Chang-Gui; Du, Wen-Hua; Liu, Bing-Li; Liu, Li-Bin; Chen, Gang; Su, Qing; Peng, Yong-De; Zhao, Jia-Jun
- Abstract
Graves' disease (GD), characterized by autoantibodies targeting antigens specifically expressed in thyroid tissues causing hyperthyroidism, is triggered by a combination of genetic and environmental factors. However, only a few loci for GD risk were confirmed in the various ethnic groups, and additional genetic determinants have to be detected. In this study, we carried out a three-stage study in 9529 patients with GD and 9984 controls to identify new risk loci for GD and found genome-wide significant associations in the overall populations for five novel susceptibility loci: the GPR174-ITM2A at Xq21.1, C1QTNF6-RAC2 at 22q12.3–13.1, SLAMF6 at 1q23.2, ABO at 9q34.2 and an intergenic region harboring two non-coding RNAs at 14q32.2 and one previous indefinite locus, TG at 8q24.22 (Pcombined < 5 × 10−8). The genotypes of corresponding variants at 14q32.2 and 8q24.22 were correlated with the expression levels of C14orf64 and a TG transcript skipping exon 46, respectively. This study increased the number of GD loci with compelling evidence and indicated that non-coding RNAs might be potentially involved in the pathogenesis of GD.
- Publication
Human Molecular Genetics, 2013, Vol 22, Issue 16, p3347
- ISSN
0964-6906
- Publication type
Article