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摩洛哥人群中基因多态性(rs1695和rs1138272)与男性不育易感性关联的病例对照研究

A Case-Control Study of the Association Between Gene Polymorphisms (rs1695 and rs1138272) and the Susceptibility to Male Infertility in the Moroccan Population.

作者信息

Harmak Houda, Redouane Salaheddine, Charoute Hicham, Aniq Filali Ouafaa, Barakat Abdelhamid, Rouba Hassan

机构信息

Laboratory of Genomics and Human Genetics, 1, Place Louis Pasteur, Institut Pasteur du Maroc, Casablanca, Morocco.

Faculty of Sciences Ain Chock, Department of Biology, Laboratory of Physiopathology, Molecular Genetics and Biotechnology, Hassan II University, Casablanca, Morocco.

出版信息

Genet Test Mol Biomarkers. 2025 Feb;29(2):21-31. doi: 10.1089/gtmb.2024.0367. Epub 2025 Jan 13.

Abstract

Infertility affects 10-15% of couples worldwide, with male factors accounting for half of cases. Environmental, behavioral, and genetic problems contribute to spermatogenic failure in 30% of idiopathic male infertility cases. Other factors, such as oxidative stress (OS), cause impaired spermatogenesis, abnormal sperm morphology, and reduced motility, eventually triggering male infertility. In the male reproductive tract, glutathione -transferase (GST) family antioxidants are essential for preventing OS, detoxification, and DNA damage protection. GSTP1 isoenzyme, one of GST members, has previously been linked to male infertility, and this case-control study is the first to assess the possible association of GSTP1 gene polymorphisms (rs1695 and rs1138272) with nonobstructive azoospermia and severe oligospermia within 300 patients and 300 controls from the Moroccan population using an allele-specific PCR. The statistical analysis was performed with the R programming language. Genotyping of polymorphisms fitted the Hardy-Weinberg equilibrium in both cases and controls ( > 0.05), but no significant association was found in rs1695 (odds ratio [OR] = 1.238, 95% confidence interval [CI] = 0.855 to 1.794, = 0.258, power = 0.204) and in rs1138272 (OR = 1.192, 95% CI = 0.852 to 0.1668, = 0.304, power = 0.176). Likewise, results from haplotype analysis (OR = 1.25, 95% CI = 0.61 to 2.57, = 0.537) and SNP-SNP interactions (OR = 1.522, 95% CI = 0.838 to 2.762, = 0.166) demonstrated no correlation with the risk of male infertility. The two SNPs (rs1695 and rs1138272) of the gene loci are not associated with male infertility susceptibility in Moroccan subjects. Yet, future investigations with a larger sample size may conclusively help to confirm this association.

摘要

全世界10%-15%的夫妇受到不孕不育的影响,其中男性因素导致的病例占一半。环境、行为和遗传问题在30%的特发性男性不育病例中导致生精失败。其他因素,如氧化应激(OS),会导致精子发生受损、精子形态异常和活力降低,最终引发男性不育。在男性生殖道中,谷胱甘肽转移酶(GST)家族抗氧化剂对于预防氧化应激、解毒和保护DNA损伤至关重要。GSTP1同工酶是GST成员之一,此前已与男性不育有关,本病例对照研究首次使用等位基因特异性PCR评估摩洛哥人群中300例患者和300例对照中GSTP1基因多态性(rs1695和rs1138272)与非梗阻性无精子症和严重少精子症之间的可能关联。使用R编程语言进行统计分析。多态性的基因分型在病例组和对照组中均符合哈迪-温伯格平衡(>0.05),但在rs1695(优势比[OR]=1.238,95%置信区间[CI]=0.855至1.794,P=0.258,检验效能=0.204)和rs1138272(OR=1.192,95%CI=0.852至1.668,P=0.304,检验效能=0.176)中未发现显著关联。同样,单倍型分析结果(OR=1.25,95%CI=0.61至2.57,P=0.537)和单核苷酸多态性-单核苷酸多态性相互作用(OR=1.522,95%CI=0.838至2.762,P=0.166)表明与男性不育风险无相关性。该基因位点的两个单核苷酸多态性(rs1695和rs1138272)与摩洛哥受试者的男性不育易感性无关。然而,未来更大样本量的研究可能最终有助于证实这种关联。

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