Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis.
10.12122/j.issn.1673-4254.2021.01.10
- Author:
Junyi CHEN
1
;
Xiangyi LIU
1
;
Yingsheng XU
1
;
Dongsheng FAN
1
Author Information
1. Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
- Publication Type:Journal Article
- Keywords:
HSPB1 gene;
Sequence Kernel Association Test;
amyotrophic lateral sclerosis;
rare variants
- MeSH:
Amyotrophic Lateral Sclerosis/genetics*;
Asian Continental Ancestry Group;
Heat-Shock Proteins;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Molecular Chaperones;
Phenotype
- From:
Journal of Southern Medical University
2021;41(1):75-78
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).
METHODS: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.
RESULTS: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
CONCLUSIONS:Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
