Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 3305-3309, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-275515
ABSTRACT
<p><b>BACKGROUND</b>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that primarily affects motor neurons and has no effective treatment. Recently, Iida et al. identified a single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B gene that is significantly associated with susceptibility to ALS in the Japanese population. Here, we performed a case-control study examining the possible association of rs2275294 with risk of sporadic ALS (SALS) in a large Chinese cohort.</p><p><b>METHODS</b>To assess this association, we performed a replication study in 953 SALS patients and 1039 age- and gender-matched healthy control subjects, who were recruited from Peking University Third Hospital and the First Affiliated Hospital of Anhui Medical University from January 2004 to December 2013 throughout China. We genotyped the rs2275294 SNP using polymerase chain reaction and direct sequencing.</p><p><b>RESULTS</b>The allele frequency of rs2275294 in ZNF512B was different between Japanese and Chinese. The association in Chinese between ALS patients and controls did not reach statistical significance (P = 0.54; odds ratio = 0.94; 95% confidence interval = 0.76-1.15).</p><p><b>CONCLUSIONS</b>The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our study highlights genetic heterogeneity in ALS susceptibility in different population. Given our negative results, further replication study involving larger and more homogeneous samples in different ethnicities should be performed in the future.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteínas de Transporte
/
Estudos de Casos e Controles
/
China
/
Epidemiologia
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Genética
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2015
Tipo de documento:
Artigo
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