Study on the association of USP8 gene polymorphisms with male infertility in ethnic Han Chinese from Sichuan / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 269-273, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239489
ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of single nucleotide polymorphisms (SNPs) of ubiquitin-specific protease 8 gene (USP8) with male infertility among ethnic Han Chinese from Sichuan.</p><p><b>METHODS</b>A total of 316 infertile males were recruited (case group), which included 72 severe oligozoospermic (SO) cases and 244 non-obstructive azoospermic (NOA) cases. The control group consisted of 149 fertile males. The genotypes of 4 SNPs (rs2241769, rs11857513, rs7174015 and rs3743044) were determined with a Sequenom MassArray technique. The frequencies of genotype, allele and haploptye were analyzed.</p><p><b>RESULTS</b>No significant difference was detected in the allelic or genotypic frequencies of the 4 SNPs between the two groups (P>0.05). Based on linkage disequilibrium analysis and haplotype construction, the frequency distribution of haplotype CAAG showed a significant difference between non-obstructive azoospermic patients and the controls (P=0.021).</p><p><b>CONCLUSION</b>The 4 SNPs (rs2241769, rs11857513, rs7174015 and rs3743044) of USP8 gene may not be associated with male infertility in ethnic Hans from Sichuan. While the haplotype CAAG may be a down-regulating factor for the risk of NOA.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Endopeptidases
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Estudos de Casos e Controles
/
China
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Ubiquitina Tiolesterase
/
Povo Asiático
/
Etnologia
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Adulto
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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