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@ARTICLE{Chen:164181,
      author       = {Chen, Yong-Ping and Yu, Shi-Hui and Wei, Qian-Qian and Cao,
                      Bei and Gu, Xiao-Jing and Chen, Xue-Ping and Song, Wei and
                      Zhao, Bi and Wu, Ying and Sun, Ming-Ming and Liu, Fei-Fei
                      and Hou, Yan-Bing and Ou, Ru-Wei and Zhang, Ling-Yu and Liu,
                      Kun-Cheng and Lin, Jun-Yu and Xu, Xin-Ran and Li, Chun-Yu
                      and Yang, Jing and Jiang, Zheng and Liu, Jiao and Cheng,
                      Yang-Fan and Xiao, Yi and Chen, Ke and Feng, Fei and Cai,
                      Ying-Ying and Li, Shi-Rong and Hu, Tao and Yuan, Xiao-Qin
                      and Guo, Xiao-Yan and Liu, Hui and Han, Qing and Zhou,
                      Qing-Qing and Shao, Na and Li, Jian-Peng and Pan, Ping-Lei
                      and Ma, Sha and Shang, Hui-Fang},
      title        = {{R}ole of genetics in amyotrophic lateral sclerosis: a
                      large cohort study in {C}hinese mainland population.},
      journal      = {Journal of medical genetics},
      volume       = {59},
      number       = {9},
      issn         = {0022-2593},
      address      = {London},
      publisher    = {BMJ Publishing Group},
      reportid     = {DZNE-2022-00837},
      pages        = {840-849},
      year         = {2022},
      note         = {CC BY-NC: https://creativecommons.org/licenses/by-nc/4.0/},
      abstract     = {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 $(40.6\%)$ 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.},
      keywords     = {Amyotrophic Lateral Sclerosis: epidemiology / Amyotrophic
                      Lateral Sclerosis: genetics / C9orf72 Protein: genetics /
                      Cohort Studies / Genetic Predisposition to Disease / Humans
                      / Mutation: genetics / Superoxide Dismutase-1: genetics /
                      genetic variation (Other) / genetics (Other) / medical
                      (Other) / neurodegenerative diseases (Other)},
      cin          = {AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9411893},
      pubmed       = {pmid:34544842},
      doi          = {10.1136/jmedgenet-2021-107965},
      url          = {https://pub.dzne.de/record/164181},
}