Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk

M. Behvarz , S.A. Rahmani , E. Siasi Torbati , S. Danaei Mehrabad , M. Bikhof Torbati
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Abstract

Introduction

Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population.

Methods

This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher’s exact tests.

Results

Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05).

Conclusion

Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.

LHCGR和NR5A1基因多态性与男性不育风险的相关性。
引言:不孕不育是人类生殖过程中的重要现象之一。遗传因素是导致男性不育的最重要原因。在此,我们旨在研究伊朗-阿塞拜疆人群中特发性男性不育与LHCGR(rs2293275)和NR5A1(rs1057517779)基因SNPs之间的相关性。方法:本病例对照研究由100名不育男性和100名来自伊朗-阿塞拜疆人群的健康男性组成。从全血样本中分离基因组DNA,并采用Tetra引物扩增难治性突变系统聚合酶链式反应(Tetra ARMS PCR)方法进行基因分型。数据分析采用卡方(χ2)和Fisher精确检验。结果:LHCGR(rs2293275)多态性基因分型分析表明,病例组C基因频率明显高于对照组(P 结论:我们的研究表明,LHCGR(rs2293275)和NR5A1(rs1057517779)基因的SNPs可能在伊朗-阿塞拜疆人群的男性不育中起着关键作用。然而,对样本量较大的其他种族起源进行进一步研究对于获得更准确的结果至关重要。此外,可能需要进行功能实验来了解这些多态性在男性生育相关分子途径中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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