Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men.
J Med Genet
; 55(6): 415-421, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29453196
ABSTRACT
BACKGROUND:
The decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility.METHODS:
A two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study using an additional 779 Japanese men.RESULTS:
In the two-staged GWAS, a single nucleotide polymorphism rs3791686 in the intron of gene for erb-b2 receptor tyrosine kinase 4 (ERBB4) on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (ß=-4.01, combined P=5.40×10-9).CONCLUSIONS:
Together with the previous evidence that Sertoli cell-specific Erbb4-knockout mice display an impaired ability to produce motile sperm, this finding provides the first genetic evidence for further investigation of the genome-wide significant association at the ERBB4 locus in larger studies across diverse human populations.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Motilidade dos Espermatozoides
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Predisposição Genética para Doença
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Estudo de Associação Genômica Ampla
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Receptor ErbB-4
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
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Systematic_reviews
Limite:
Animals
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Female
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Humans
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Male
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Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão