Association between single nucleotide polymorphisms of 5'-untranslated region of GPx4 gene and male infertility / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the association between the single nucleotide polymorphisms (SNPs) of the 5'-untranslated region (5'-UTR) of phospholipid hydroperoxide glutathione peroxidase (GPx4 or PHGPx) gene and oligo- or asthenozoospermic male infertility.</p><p><b>METHODS</b>The 5'-UTR region of the GPx4 gene was amplified from infertile men and controls using the polymerase chain reaction and was analyzed for polymorphisms by direct sequencing.</p><p><b>RESULTS</b>A total of 9 SNPs were present in the cohort, however there were no significant differences in these 9 SNPs between the case and control groups. According to the results of linkage disequilibrium analysis and haplotype construction, one haplotype (rs757229-rs757230-rs4588110-rs3746165-rs3746166 C-G-G-T-A) was present only in the control men, and significant difference was detected(P< 0.01).</p><p><b>CONCLUSION</b>The SNPs of 5'-UTR region of the GPx4 gene might not be associated with oligo- or asthenozoospermic male infertility. However, the haplotype (rs757229-rs757230-rs4588110- rs3746165-rs3746166 C-G-G-T-A) might be a protective haplotype.</p>