越南个体TEX15单倍型与男性不育的关系

La Duc Duy, Nguyen Phuong Anh, Nguyen Thuy Duong
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摘要

不孕不育是全球关注的问题,影响着15%的夫妇,其中大约一半是男性。在导致男性不育的遗传因素中,TEX15(睾丸表达基因15)已经在全球多个队列中进行了研究,并确定与减数分裂重组失败和DNA修复系统故障有关。为了评估越南队列中男性不育与TEX15的关系,我们进行了TEX15 rs323345多态性的病例对照关联研究,并进一步分析了TEX15 rs323345和TEX15 rs142485241的单倍型。本研究共招募了420名无亲缘关系的越南男性,其中包括212名不育患者和208名健康对照。采用PCR-RFLP方法测定多态性TEX15 rs323345的基因型和等位基因频率。结果表明,该多态性的基因型分布符合Hardy-Weinberg平衡(p值> 0.05),而TEX15 rs323345多态性与男性不育的相关性在加性、显性和隐性三种模式下均无显著差异(p值> 0.05)。然而,单倍型分析显示,TEX15基因的两个变异(rs323345和rs142485241)的单倍型GT与男性不育风险增加相关(p = 0.023, OR = 1.937, 95% CI = 1.085 ~ 3.456)。该研究表明,单倍型分析可以揭示在单个SNP分析中通常无法注意到的基因之间的潜在关联。
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The association of TEX15 haplotype with male infertility in Vietnamese individuals
Infertility is a global concern that affects 15% of couples, and roughly half of those cases are male-specific. Among the genetic factors that contributed heavily to male infertility, TEX15 (testis-expressed gene 15) has been studied across multiple cohorts worldwide and identified to relate to meiotic recombination failure and DNA repair system malfunction. To assess the relationship between male infertility and TEX15 in a Vietnamese cohort, we performed a case-control association study of polymorphism TEX15 rs323345 and a further analysis of haplotypes of TEX15 rs323345 and TEX15 rs142485241. A total of 420 unrelated Vietnamese males, including 212 infertile patients and 208 healthy controls, were recruited for the present study. The genotype and allele frequencies of the polymorphism TEX15 rs323345 were determined by PCR-RFLP method. The results showed that the distribution of genotypes of this polymorphism followed Hardy-Weinberg equilibrium (p-value > 0.05), but the association between the polymorphism TEX15 rs323345 and male infertility was not significantly different in all three models (additive, dominant, and recessive) (p-values > 0.05). However, haplotype analysis revealed that haplotype GT of the two variants (rs323345 and rs142485241) of the TEX15 gene was correlated with an increased risk of male infertility (p = 0.023, OR = 1.937, 95% CI = 1.085-3.456). This study demonstrated that haplotype analysis could unveil potential associations in genes that could normally be unnoticed in an individual SNP analysis.
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