ArticleNan fang yi ke da xue xue bao = Journal of Southern Medical University2021
[Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].
Article in Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Heat Shock Proteins: Important Helpers for the Development, Maintenance and Regeneration of Skeletal Muscles.Muscles (Basel, Switzerland) · 2023Review
- Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation inBiomolecules · 2022Article
- Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.Cell stress & chaperones · 2022Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).
methodsWe 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.
resultsWe 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
conclusionsRare variants of HSPB1 are probably associated with the pathogenesis of ALS.
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Registered trials
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