Correlation of Single Nucleotide Polymorphisms of PRM1, PRM2, PYGO2, and DAZL Genes with Male Infertility in North West of Iran.

Objective: Almost half of infertility is related to male factors. Although the effect of genetic factors on male infertility is identified, about 30%-50% still has no proven cause and is classified as idiopathic infertility. This study was performed to investigate the correlation of some single nucleotide polymorphisms of PYGO2, DAZL, PRM1, and PRM2 genes with male infertility in idiopathic cases among the Iranian population.

Material and methods: In this case-control study, 120 idiopathic azoospermia or severe oligospermia patients in the range of 25-45 years and 120 fertile men in the same age range were recruited as case and control groups, respectively. Eight different single nucleotide polymorphisms including PRM1 rs737008, PRM1 rs423668, PRM2 rs1646022, PRM2 rs11645592, PYGO2 rs141722381, PYGO2rs61758741, DAZL rs75931701, and DAZL rs188506466 were genotyped by using ampli ficat ion-r efrac tory mutation system polymerase chain reaction methods. Hardy-Weinberg was calculated by using online website. Statistical Package for Social Sciences software was applied for statistical analysis. P value <.05 was considered significant. Thirty percent of the samples were regenotyped to confirm the obtained results.

Results: The obtained results showed a significant correlation between PYGO2 rs141722381 in the heterozygote form (odds ratio: 2.803, 95% CI: 1.397-5.626). Heterozygote over-dominance was also observed in this variant (odds ratio: 2.637, 95%CI: 1.321-5.264). There was no significant association between other studied single nucleotide polymorphisms and male infertility.

Conclusion: This study proposed a novel single nucleotide polymorphism as a predisposition of male infertility among the Iranian population, but more studies in larger populations are needed to confirm the results.