Telomere Length and Male Fertility

Int J Mol Sci. 2021 Apr 12;22(8):3959. doi: 10.3390/ijms22083959.


Over the past decade, telomeres have attracted increasing attention due to the role they play in human fertility. However, conflicting results have been reported on the possible association between sperm telomere length (STL) and leukocyte telomere length (LTL) and the quality of the sperm parameters. The aim of this study was to run a comprehensive study to investigate the role of STL and LTL in male spermatogenesis and infertility. Moreover, the association between the sperm parameters and 11 candidate single nucleotide polymorphisms (SNPs), identified in the literature for their association with telomere length (TL), was investigated. We observed no associations between sperm parameters and STL nor LTL. For the individual SNPs, we observed five statistically significant associations with sperm parameters: considering a p < 0.05. Namely, ACYP2-rs11125529 and decreased sperm motility (p = 0.03); PXK-rs6772228 with a lower sperm count (p = 0.02); NAF1-rs7675998 with increased probability of having abnormal acrosomes (p = 0.03) and abnormal flagellum (p = 0.04); ZNF208-rs8105767 and reduction of sperms with normal heads (p = 0.009). This study suggests a moderate involvement of telomere length in male fertility; however, in our analyses four SNPs were weakly associated with sperm variables, suggesting the SNPs to be pleiotropic and involved in other regulatory mechanisms independent of telomere homeostasis, but involved in the spermatogenic process.

Keywords: LTL1; STL; infertility; spermatogenesis; telomere length.

MeSH terms

  • Acid Anhydride Hydrolases / genetics*
  • Acrosome / metabolism
  • Acrosome / pathology
  • Adult
  • Female
  • Genetic Association Studies
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Leukocytes / metabolism
  • Leukocytes / pathology
  • Male
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Protein Serine-Threonine Kinases / genetics*
  • Ribonucleoproteins / genetics*
  • Spermatogenesis / genetics
  • Spermatozoa / metabolism
  • Spermatozoa / pathology
  • Telomere / genetics*
  • Telomere Homeostasis / genetics


  • Intracellular Signaling Peptides and Proteins
  • NAF1 protein, human
  • Nerve Tissue Proteins
  • Ribonucleoproteins
  • PXK protein, human
  • Protein Serine-Threonine Kinases
  • Acid Anhydride Hydrolases
  • ACYP2 protein, human