• PMID: 21644221
• Gene Name: GPX4
• Condition: Oligozoospermia, asthenozoospermia, male infertility
• Association: Not associated
• Mutation: GPx4 (rs757229-rs757230-rs4588110- rs3746165-rs3746166: C-G-G-T-A)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: GPx4
• Other associated phenotypes: Oligozoospermia, asthenozoospermia, male infertility

[Association between single nucleotide polymorphisms of 5'-untranslated region of GPx4 gene and male infertility]

Liu SY, Zhang CJ, Si XM, Yao YF, Shi L, Ke JK, Yu L, Shi L, Yang ZQ, Huang XQ, Sun H, Chu JY.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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. FAU - Liu, Shu-yuan AU - Liu SY AD - Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, 650118 P. R. China. FAU - Zhang, Chang-jun AU - Zhang CJ FAU - Si, Xiao-min AU - Si XM FAU - Yao, Yu-feng AU - Yao YF FAU - Shi, Lei AU - Shi L FAU - Ke, Jin-kun AU - Ke JK FAU - Yu, Liang AU - Yu L FAU - Shi, Li AU - Shi L FAU - Yang, Zhao-qin AU - Yang ZQ FAU - Huang, Xiao-qin AU - Huang XQ FAU - Sun, Hao AU - Sun H