Journal
JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 6, Pages 415-421Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2017-104991
Keywords
-
Categories
Funding
- Ministry of Health and Welfare of Japan from the Japan Society for the Promotion of Science [1013201, 26462461, 23510242, 17H04331, 15H04320]
- European Union [BMH4-CT96-0314]
- Takeda Science Foundation
- Suzuki Urinary Foundation
- Grants-in-Aid for Scientific Research [17H04331, 15K10652, 15H04320, 15H02898, 23510242, 26462461] Funding Source: KAKEN
Ask authors/readers for more resources
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 (beta=-4.01, combined P=5.40x10(-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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available