Purpose

A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.

Methods

A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.

Results

According to codominant (P_codom = 0.048, OR_codom = 0.57, 95%CI 0.35–0.92) and overdominant (P_overdom = 0.017, OR_overdom = 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (P_codom = 0.038, OR_codom = 0.47, 95%CI 0.26–0.85; P_dom = 0.031, OR_dom = 0.53, 95%CI 0.30–0.94; P_overdom = 0.016, OR_overdom = 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (P = 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.

Conclusion

Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.

中文翻译：

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单核苷酸变异 rs12097821、rs2477686 和 rs10842262 与塞尔维亚人群特发性男性不育风险之间的关联研究，采用荟萃分析。

目的

在汉族人群中进行的全基因组关联研究确定了三个单核苷酸变异 rs12097821、rs2477686 和 rs10842262 与非梗阻性无精子症显着相关。我们的目的是评估这些易感基因位点与塞尔维亚人群中特发性男性不育风险之间的可能关联。

方法

对来自塞尔维亚人群的 431 名男性个体进行了病例对照研究，分为两组。病例组由 208 名被诊断为少弱精子症或非梗阻性无精子症的男性组成，而对照组则包括 223 名生育过至少一个孩子的男性。

结果

根据共显性 ( P _codom  = 0.048, OR _codom  = 0.57, 95%CI 0.35–0.92) 和显性 ( P _overdom  = 0.017, OR _overdom  = 0.62, 95%CI 0.42–0.92) 遗传模型，发现 rs10842 与 rs10842 相关与男性不育。在多种遗传模型下，根据诊断对不育男性进行分层对非梗阻性无精子症病例产生了具有统计学意义的结果（P _codom  = 0.038, OR _codom  = 0.47, 95%CI 0.26–0.85; P _dom  = 0.031, OR _dom  = 0.53, 95% CI 0.30–0.94；P _overdom  = 0.016，OR _overdom = 0.55, 95% CI 0.33–0.90)。在对数加法遗传模型下，rs2477686 遗传变异的次要等位基因 C 显示与少弱精子症风险降低相关（P  = 0.03，OR = 0.69，95%CI 0.50–0.97）。荟萃分析的结果表明 rs2477686 和 rs10842262 都与男性不育有关。

结论

我们的结果显示变体 rs2477686 和 rs10842262 与塞尔维亚人群中的男性不育显着相关。然而，需要在其他人群中进行病例对照研究来验证它们与被诊断为少弱精子症和非梗阻性无精子症的男性不育的关联。