학술논문
Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson’s disease in Chinese population
Document Type
article
Author
Hongxu Pan; Zhenhua Liu; Jinghong Ma; Yuanyuan Li; Yuwen Zhao; Xiaoxia Zhou; Yaqin Xiang; Yige Wang; Xun Zhou; Runcheng He; Yali Xie; Qiao Zhou; Kai Yuan; Qian Xu; Qiying Sun; Junling Wang; Xinxiang Yan; Hainan Zhang; Chunyu Wang; Lifang Lei; Weiguo Liu; Xuejing Wang; Xuebing Ding; Tao Wang; Zheng Xue; Zhentao Zhang; Ling Chen; Qing Wang; Yonghong Liu; Jiayu Tang; Xuewei Zhang; Shifang Peng; Chaodong Wang; Jianqing Ding; Chunfeng Liu; Lijuan Wang; Haibo Chen; Lu Shen; Hong Jiang; Xinyin Wu; Hongzhuan Tan; Dan Luo; Shuiyuan Xiao; Xiang Chen; Jieqiong Tan; Zhengmao Hu; Chao Chen; Kun Xia; Zhuohua Zhang; Jia Nee Foo; Cornelis Blauwendraat; Mike A. Nalls; Andrew B. Singleton; Jun Liu; Piu Chan; Houfeng Zheng; Jinchen Li; Jifeng Guo; Jian Yang; Beisha Tang; the Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC)
Source
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)
Subject
Language
English
ISSN
2373-8057
Abstract
Abstract Genome-wide association studies (GWASs) have identified numerous susceptibility loci for Parkinson’s disease (PD), but its genetic architecture remains underexplored in populations of non-European ancestry. To identify genetic variants associated with PD in the Chinese population, we performed a GWAS using whole-genome sequencing (WGS) in 1,972 cases and 2,478 controls, and a replication study in a total of 8209 cases and 9454 controls. We identified one new risk variant rs61204179 (P combined = 1.47 × 10−9) with low allele frequency, four previously reported risk variants (NUCKS1/RAB29-rs11557080, SNCA-rs356182, FYN-rs997368, and VPS13C-rs2251086), as well as three risk variants in LRRK2 coding region (A419V, R1628P, and G2385R) with genome-wide significance (P