Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis / 南方医科大学学报
Journal of Southern Medical University
;
(12): 75-78, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-880830
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Chaperonas Moleculares
/
Povo Asiático
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Proteínas de Choque Térmico
/
Heterozigoto
/
Esclerose Lateral Amiotrófica
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Southern Medical University
Ano de publicação:
2021
Tipo de documento:
Artigo
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