AI Article Synopsis

  • A study was conducted to understand how genetic factors influence sperm motility, which is important for fertilization and affected by lifestyle and environmental influences.
  • Researchers performed a two-stage genome-wide association study (GWAS) with over 1,500 Japanese men to identify genetic differences related to sperm movement.
  • The study found a significant genetic variant (rs3791686) linked to sperm motility, suggesting a novel target for further investigation into the genetic underpinnings of fertility.

Article 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 () on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (β=-4.01, combined P=5.40×10).

Conclusions: Together with the previous evidence that Sertoli cell-specific -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 locus in larger studies across diverse human populations.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992371PMC
http://dx.doi.org/10.1136/jmedgenet-2017-104991DOI Listing

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