Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese

• Published in: Nature communications Vol. 6; no. 1; p. 7041
• Main Authors: Li, Changgui, Li, Zhiqiang, Liu, Shiguo, Wang, Can, Han, Lin, Cui, Lingling, Zhou, Jingguo, Zou, Hejian, Liu, Zhen, Chen, Jianhua, Cheng, Xiaoyu, Zhou, Zhaowei, Ding, Chengcheng, Wang, Meng, Chen, Tong, Cui, Ying, He, Hongmei, Zhang, Keke, Yin, Congcong, Wang, Yunlong, Xing, Shichao, Li, Baojie, Ji, Jue, Jia, Zhaotong, Ma, Lidan, Niu, Jiapeng, Xin, Ying, Liu, Tian, Chu, Nan, Yu, Qing, Ren, Wei, Wang, Xuefeng, Zhang, Aiqing, Sun, Yuping, Wang, Haili, Lu, Jie, Li, Yuanyuan, Qing, Yufeng, Chen, Gang, Wang, Yangang, Zhou, Li, Niu, Haitao, Liang, Jun, Dong, Qian, Li, Xinde, Mi, Qing-Sheng, Shi, Yongyong
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 13.05.2015; Nature Publishing Group; Nature Pub. Group
• Subjects: 631/208/205/2138; 692/420/2489/144; 692/699/1670/3/2765/1528; Asian Continental Ancestry Group - genetics; Case-Control Studies; Cohort Studies; Crystals; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Gout - genetics; Humanities and Social Sciences; Humans; Male; multidisciplinary; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary)
• ISSN: 2041-1723; 2041-1723
• DOI: 10.1038/ncomms8041

Gout is one of the most common types of inflammatory arthritis, caused by the deposition of monosodium urate crystals in and around the joints. Previous genome-wide association studies (GWASs) have identified many genetic loci associated with raised serum urate concentrations. However, hyperuricemia alone is not sufficient for the development of gout arthritis. Here we conduct a multistage GWAS in Han Chinese using 4,275 male gout patients and 6,272 normal male controls (1,255 cases and 1,848 controls were genome-wide genotyped), with an additional 1,644 hyperuricemic controls. We discover three new risk loci, 17q23.2 (rs11653176, P =1.36 × 10 −13 , BCAS3 ), 9p24.2 (rs12236871, P =1.48 × 10 −10 , RFX3 ) and 11p15.5 (rs179785, P =1.28 × 10 −8 , KCNQ1 ), which contain inflammatory candidate genes. Our results suggest that these loci are most likely related to the progression from hyperuricemia to inflammatory gout, which will provide new insights into the pathogenesis of gout arthritis. Raised serum urate levels are a risk factor for gout, a common form of inflammatory arthritis. Here Li et al. conduct a multistage genome-wide association study in a Han Chinese population and identify three novel loci likely associated with the progression from hyperuricemia to gout.