A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.


To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.

DOI: 10.1038/ng.1005

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@article{Lin2012AGA, title={A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.}, author={Zhiming Lin and Jin-Xin Bei and Meixin Shen and Qiuxia Li and Zetao Liao and Yan-li Zhang and Qing Lv and Qiujing Wei and Hui Qi Low and Yun-Miao Guo and Shuangyan Cao and Mingcan Yang and Zaiying Hu and Manlong Xu and Xinwei Wang and Yanlin Wei and Li Li and Chao Li and Tianwang Li and Jianlin Huang and Yunfeng Pan and Ou Jin and Yuqiong Wu and Jing Wu and Zishi Guo and Peigen He and Shaoxian Hu and Husheng Wu and Hui Song and Feng Zhan and Shengyun Liu and Guanmin Gao and Zhang-suo Liu and Yinong Li and Changhong Xiao and Juan Li and Zhizhong Ye and Weizhen He and Dongzhou Liu and Lingxun Shen and Anbin Huang and Henglian Wu and Yi Tao and Xieping Pan and Buyun Yu and E. Shyong Tai and Yi Zeng and Ee Chee Ren and Yan Shen and Jianjun Liu and Jieruo Gu}, journal={Nature genetics}, year={2012}, volume={44 1}, pages={73-7} }