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000164181 037__ $$aDZNE-2022-00837
000164181 041__ $$aEnglish
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000164181 1001_ $$aChen, Yong-Ping$$b0
000164181 245__ $$aRole of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
000164181 260__ $$aLondon$$bBMJ Publishing Group$$c2022
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000164181 520__ $$aA large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers.A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed.155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition.Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.
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000164181 650_7 $$2Other$$agenetic variation
000164181 650_7 $$2Other$$agenetics
000164181 650_7 $$2Other$$amedical
000164181 650_7 $$2Other$$aneurodegenerative diseases
000164181 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: epidemiology
000164181 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000164181 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000164181 650_2 $$2MeSH$$aCohort Studies
000164181 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000164181 650_2 $$2MeSH$$aHumans
000164181 650_2 $$2MeSH$$aMutation: genetics
000164181 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000164181 7001_ $$aYu, Shi-Hui$$b1
000164181 7001_ $$aWei, Qian-Qian$$b2
000164181 7001_ $$aCao, Bei$$b3
000164181 7001_ $$aGu, Xiao-Jing$$b4
000164181 7001_ $$aChen, Xue-Ping$$b5
000164181 7001_ $$aSong, Wei$$b6
000164181 7001_ $$aZhao, Bi$$b7
000164181 7001_ $$aWu, Ying$$b8
000164181 7001_ $$aSun, Ming-Ming$$b9
000164181 7001_ $$aLiu, Fei-Fei$$b10
000164181 7001_ $$aHou, Yan-Bing$$b11
000164181 7001_ $$aOu, Ru-Wei$$b12
000164181 7001_ $$aZhang, Ling-Yu$$b13
000164181 7001_ $$aLiu, Kun-Cheng$$b14
000164181 7001_ $$aLin, Jun-Yu$$b15
000164181 7001_ $$aXu, Xin-Ran$$b16
000164181 7001_ $$aLi, Chun-Yu$$b17
000164181 7001_ $$aYang, Jing$$b18
000164181 7001_ $$aJiang, Zheng$$b19
000164181 7001_ $$aLiu, Jiao$$b20
000164181 7001_ $$aCheng, Yang-Fan$$b21
000164181 7001_ $$aXiao, Yi$$b22
000164181 7001_ $$aChen, Ke$$b23
000164181 7001_ $$aFeng, Fei$$b24
000164181 7001_ $$aCai, Ying-Ying$$b25
000164181 7001_ $$aLi, Shi-Rong$$b26
000164181 7001_ $$aHu, Tao$$b27
000164181 7001_ $$aYuan, Xiao-Qin$$b28
000164181 7001_ $$aGuo, Xiao-Yan$$b29
000164181 7001_ $$0P:(DE-2719)9001971$$aLiu, Hui$$b30$$udzne
000164181 7001_ $$aHan, Qing$$b31
000164181 7001_ $$aZhou, Qing-Qing$$b32
000164181 7001_ $$aShao, Na$$b33
000164181 7001_ $$aLi, Jian-Peng$$b34
000164181 7001_ $$aPan, Ping-Lei$$b35
000164181 7001_ $$aMa, Sha$$b36
000164181 7001_ $$00000-0003-0947-1151$$aShang, Hui-Fang$$b37
000164181 773__ $$0PERI:(DE-600)2009590-9$$a10.1136/jmedgenet-2021-107965$$gp. jmedgenet-2021-107965 -$$n9$$p840-849$$tJournal of medical genetics$$v59$$x0022-2593$$y2022
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