Beta Amyloid Peptide: Research Paper : [Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis]

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

Abstract 

in English, Chinese

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=3.61×10-7 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.

Conclusions: Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.

Keywords: HSPB1 gene; Sequence Kernel Association Test; amyotrophic lateral sclerosis; rare variants.

This article originally appeared in the "https://pubmed.ncbi.nlm.nih.gov/33509756/" and has their copyrights. We do not claim copyright on the content. This information is for research purposes only. This Blog is made available by publishers for educational purposes only as well as to give you general information and a general understanding , not to provide specific advice. By using this blog site you understand that there is no client relationship between you and the Blog publisher. The Blog should not be used as a substitute for competent research advice.