Correlación entre el polimorfismo de los genes LHCGR y NR5A1y el riesgo de infertilidad masculina

IF 1.2 4区医学 Q3 UROLOGY & NEPHROLOGY Actas urologicas espanolas Pub Date : 2024-04-01 DOI:10.1016/j.acuro.2023.08.002

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.

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LHCGR 和 NR5A1 基因多态性与男性不育风险的相关性

导言不育症是人类生殖领域的重要现象之一。遗传因素是导致男性不育的最重要原因。本文旨在研究伊朗阿泽里人特发性男性不育症与 LHCGR（rs2293275）和 NR5A1（rs1057517779）基因 SNPs 之间的相关性。从全血样本中分离基因组 DNA，采用四引物扩增难治性突变系统聚合酶链反应（Tetra-ARMS-PCR）方法进行基因分型。结果LHCGR（rs2293275）多态性的基因分型分析表明，病例组 C 的频率明显高于对照组（P< .05）。此外，NR5A1（rs1057517779）多态性的基因分型分析表明，病例组中 A 等位基因和杂合子 GA 基因型的频率明显高于对照组（P<.05）。不过，要获得更准确的结果，还必须对其他种族的人群进行样本量更大的进一步研究。此外，可能还需要进行功能实验，以了解这些多态性在男性生育能力分子通路中的作用。

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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来源期刊

Actas urologicas espanolas UROLOGY & NEPHROLOGY-

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

46 days

期刊介绍： Actas Urológicas Españolas is an international journal dedicated to urological diseases and renal transplant. It has been the official publication of the Spanish Urology Association since 1974 and of the American Urology Confederation since 2008. Its articles cover all aspects related to urology. Actas Urológicas Españolas, governed by the peer review system (double blinded), is published online in Spanish and English. Consequently, manuscripts may be sent in Spanish or English and bidirectional free cost translation will be provided.