Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].

To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS). We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS. We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10-7 and SKAT-O p=1.62×10-6; while compared with the in-house database, SKAT p=9.99×10-4, SKAT-O p= 1.80×10-3. We analyzed the phenotypes of rare HSPB1 variant carriers and found no specific clinical characteristics associated with these variants. Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.

Citation

Junyi Chen, Xiangyi Liu, Yingsheng Xu, Dongsheng Fan. Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University. 2021 Jan 30;41(1):75-78

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PMID: 33509756

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