%0 Journal Article
%A Chen, Yong-Ping
%A Yu, Shi-Hui
%A Wei, Qian-Qian
%A Cao, Bei
%A Gu, Xiao-Jing
%A Chen, Xue-Ping
%A Song, Wei
%A Zhao, Bi
%A Wu, Ying
%A Sun, Ming-Ming
%A Liu, Fei-Fei
%A Hou, Yan-Bing
%A Ou, Ru-Wei
%A Zhang, Ling-Yu
%A Liu, Kun-Cheng
%A Lin, Jun-Yu
%A Xu, Xin-Ran
%A Li, Chun-Yu
%A Yang, Jing
%A Jiang, Zheng
%A Liu, Jiao
%A Cheng, Yang-Fan
%A Xiao, Yi
%A Chen, Ke
%A Feng, Fei
%A Cai, Ying-Ying
%A Li, Shi-Rong
%A Hu, Tao
%A Yuan, Xiao-Qin
%A Guo, Xiao-Yan
%A Liu, Hui
%A Han, Qing
%A Zhou, Qing-Qing
%A Shao, Na
%A Li, Jian-Peng
%A Pan, Ping-Lei
%A Ma, Sha
%A Shang, Hui-Fang
%T Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
%J Journal of medical genetics
%V 59
%N 9
%@ 0022-2593
%C London
%I BMJ Publishing Group
%M DZNE-2022-00837
%P 840-849
%D 2022
%Z CC BY-NC: https://creativecommons.org/licenses/by-nc/4.0/
%X A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers.A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed.155 patients, including 26 (40.6
%K Amyotrophic Lateral Sclerosis: epidemiology
%K Amyotrophic Lateral Sclerosis: genetics
%K C9orf72 Protein: genetics
%K Cohort Studies
%K Genetic Predisposition to Disease
%K Humans
%K Mutation: genetics
%K Superoxide Dismutase-1: genetics
%K genetic variation (Other)
%K genetics (Other)
%K medical (Other)
%K neurodegenerative diseases (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC9411893
%$ pmid:34544842
%R 10.1136/jmedgenet-2021-107965
%U https://pub.dzne.de/record/164181