越南人群中 CFAP43 和 TEX14 的单核苷酸多态性与特发性男性不育有关。

Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population.

机构信息

Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.

Department of Human Anatomy, Vietnam Military Medical University, Hanoi, Vietnam.

出版信息

Medicine (Baltimore). 2024 Sep 27;103(39):e39839. doi: 10.1097/MD.0000000000039839.

Abstract

Male infertility is a multifactorial disease due to spermatogenesis impairment, with etiology remaining unknown for roughly one-third of infertile cases. Several studies have demonstrated that genetic variants are male infertility risk factors. CFAP43 and TEX14 are involved in the spermatogenesis process. The present study aimed to assess the association between single-nucleotide polymorphisms (SNPs) in CFAP43 (rs17116635 and rs10883979) and TEX14 (rs79813370 and rs34818467) and idiopathic male infertility in a Vietnamese population. A cohort of 206 infertile men and 195 controls were recruited for the study. CFAP43 and TEX14 SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotypes of randomly selected samples, accounting for 10% of the total, were confirmed using Sanger sequencing. The obtained data were analyzed using statistical methods. The results showed that 4 SNPs (rs17116635, rs10883979, rs79813370, and rs34818467) were in accordance with Hardy-Weinberg Equilibrium (HWE; P > .05). CFAP43 rs10883979 and TEX14 rs79813370 were associated with male infertility. For CFAP43 rs10883979, in the recessive model, the combination AA + AG was associated with male infertility when compared to the GG genotype (OR = 0.26; 95% CI: 0.06-0.85; P = .02). For TEX14 rs79813370, a protective effect against infertility risk was identified in the presence of the T allele of rs79813370 when compared to the G allele (OR = 0.48; 95% CI: 0.32-0.72; P < .001). Our results suggest that CFAP43 rs10883979 and TEX14 rs79813370 are likely associated with male infertility in the Vietnamese population, in which the G allele of rs79813370 may be a risk factor for male infertility.

摘要

男性不育是一种多因素疾病,由于精子发生受损,大约三分之一的不育病例病因不明。几项研究表明,遗传变异是男性不育的风险因素。CFAP43 和 TEX14 参与精子发生过程。本研究旨在评估越南人群中 CFAP43(rs17116635 和 rs10883979)和 TEX14(rs79813370 和 rs34818467)单核苷酸多态性(SNP)与特发性男性不育之间的关联。一项由 206 名不育男性和 195 名对照组成的队列被招募进行这项研究。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对 CFAP43 和 TEX14 SNP 进行基因分型。随机选择 10%的总样本进行测序,以验证基因型。使用统计方法分析所获得的数据。结果显示,4 个 SNP(rs17116635、rs10883979、rs79813370 和 rs34818467)符合 Hardy-Weinberg 平衡(HWE;P>.05)。CFAP43 rs10883979 和 TEX14 rs79813370 与男性不育有关。对于 CFAP43 rs10883979,在隐性模型中,与 GG 基因型相比,AA+AG 组合与男性不育相关(OR=0.26;95%CI:0.06-0.85;P=0.02)。对于 TEX14 rs79813370,与 G 等位基因相比,rs79813370 的 T 等位基因存在对不育风险的保护作用(OR=0.48;95%CI:0.32-0.72;P<.001)。我们的结果表明,CFAP43 rs10883979 和 TEX14 rs79813370 可能与越南人群中的男性不育有关,其中 rs79813370 的 G 等位基因可能是男性不育的风险因素。

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