The possible impact of DNA-binding chromodomain-helicase 5 polymorphisms on male infertility: A case-control study

J Obstet Gynaecol Res. 2023 Apr;49(4):1214-1221. doi: 10.1111/jog.15560. Epub 2023 Jan 25.

Abstract

Background: Chromodomain-helicase 5 (CHD5) is a conventional tumor-suppressing gene in many tumors. The CHD5 gene, as a key factor in the chromatin density process during sperm maturation, can affect the risk of infertility. This study aimed to determine whether CHD5 variants contribute to the risk of male infertility.

Methods: Gene variants were identified using tetra primer-ARMS-PCR method on nonobstructive azoospermia and severe oligozoospermia in a case-control study. SPSS software 20 (SPSS Inc. Chicago, IL, USA) was used for data recording and statistical analysis.

Results: In the codominant pattern, the rs12067480 TT variant versus CC significantly increased the risk of disease, and also, in the recessive pattern, TT variant versus CC + CT and T allele versus C. The rs2273032 variant was associated with the risk of infertility in codominant pattern AA versus GG and recessive pattern AA versus GG + GA and allele. We discovered that the rs12067480 T and rs2273032 A alleles increase the risk of male infertility. Also, the interaction of the CT/GA, CT/AA, TT/GA genotypes and rs12067480T/rs2273032A and rs12067480T/rs2273032G haplotypes significantly increased the risk of infertility.

Conclusions: Our results suggest that the CHD5 gene polymorphisms contribute to the risk of male infertility. Our findings can be valuable in improving the diagnosis and treatment of infertility.

Keywords: CHD5; azoospermia; gene polymorphism; male infertility; oligozoospermia.

MeSH terms

  • Case-Control Studies
  • DNA
  • DNA Helicases* / genetics
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infertility, Male* / genetics
  • Male
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Single Nucleotide
  • Semen

Substances

  • DNA Helicases
  • DNA
  • CHD5 protein, human
  • Nerve Tissue Proteins