AI Article Synopsis

  • The study investigates whether certain genetic variants linked to family size and birth rates in healthy men also affect sperm morphology in men facing infertility.
  • Researchers analyzed sperm morphology in 126 ethnically diverse men and found two specific genetic variants (SNPs) associated with lower percentages of normal sperm morphology and increased sperm head defects.
  • The findings suggest that these SNPs may point to important biological pathways affecting sperm production and male reproductive health, potentially helping identify new genetic factors involved in fertility.

Article Abstract

Purpose: Abnormalities in semen parameters are often associated with reduced fertility in males, and may, in part, be attributed to genetic variation. Aim of this study is to determine if genetic variants that were previously shown to be predictors of family size and birth rate in healthy men are also associated with sperm morphology in men recruited from an infertility laboratory.

Methods: Genetic associations with sperm morphology phenotypes in 126 ethnically diverse men from Chicago at 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men, were tested.

Results: Two intronic SNPs, rs680730 (in DSCAML1) and rs10129954 (in DPF3), were associated with the percent of normal sperm morphology in Chicago men (P = 0.017 and 0.023, respectively). Furthermore, both loci were associated with increased occurrence of sperm head defects.

Conclusions: SNPs in two genes, both of which have roles in nervous system development, were associated with poor sperm morphology. These results may be helpful in identification of other novel genes and biological pathways whose proper functioning is crucial for sperm production and male reproductive processes.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933604PMC
http://dx.doi.org/10.1007/s10815-013-0140-9DOI Listing

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