| Literature DB >> 24212883 |
Huayang Tang1, Xin Jin2, Yang Li1, Hui Jiang3, Xianfa Tang1, Xu Yang4, Hui Cheng5, Ying Qiu6, Gang Chen5, Junpu Mei4, Fusheng Zhou5, Renhua Wu4, Xianbo Zuo5, Yong Zhang4, Xiaodong Zheng5, Qi Cai7, Xianyong Yin5, Cheng Quan5, Haojing Shao4, Yong Cui5, Fangzhen Tian6, Xia Zhao4, Hong Liu8, Fengli Xiao5, Fengping Xu4, Jianwen Han9, Dongmei Shi6, Anping Zhang5, Cheng Zhou10, Qibin Li4, Xing Fan5, Liya Lin4, Hongqing Tian8, Zaixing Wang5, Huiling Fu4, Fang Wang10, Baoqi Yang8, Shaowei Huang4, Bo Liang5, Xuefeng Xie4, Yunqing Ren5, Qingquan Gu4, Guangdong Wen10, Yulin Sun11, Xueli Wu4, Lin Dang12, Min Xia4, Junjun Shan13, Tianhang Li6, Lin Yang4, Xiuyun Zhang6, Yuzhen Li12, Chundi He14, Aie Xu13, Liping Wei15, Xiaohang Zhao11, Xinghua Gao14, Jinhua Xu16, Furen Zhang8, Jianzhong Zhang10, Yingrui Li4, Liangdan Sun5, Jianjun Liu5, Runsheng Chen17, Sen Yang5, Jun Wang18, Xuejun Zhang19.
Abstract
To explore the contribution of functional coding variants to psoriasis, we analyzed nonsynonymous single-nucleotide variants (SNVs) across the genome by exome sequencing in 781 psoriasis cases and 676 controls and through follow-up validation in 1,326 candidate genes by targeted sequencing in 9,946 psoriasis cases and 9,906 controls from the Chinese population. We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. Rare missense SNVs in FUT2 and TARBP1 were also observed with suggestive evidence of association. Single-variant and gene-based association analyses of nonsynonymous SNVs did not identify newly associated genes for psoriasis in the regions subjected to targeted resequencing. This suggests that coding variants in the 1,326 targeted genes contribute only a limited fraction of the overall genetic risk for psoriasis.Entities:
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Year: 2013 PMID： 24212883 DOI： 10.1038/ng.2827
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330