Infertility is a multifactorial and polygenic disease. A vast majority of infertility is still unexplained despite modern diagnostic techniques. Oxidative stress is considered a factor for male infertility but etiology in terms of functional gene polymorphism and experimental studies on human subjects is scarcely reported. The aim of the study was to investigate the status of three antioxidant enzymes; catalase, superoxide dismutase (SOD), and glutathione reduced (GSH) in clinically diagnosed infertile males and find the potential association of CAT gene variant in the promoter region −21 A/T (rs7943316). The study consisted of 55 clinically diagnosed infertile males and 50 non-infertile volunteers. The activity of antioxidant enzymes was measured through a spectrophotometer. Polymerase chain reaction–restriction fragment length polymorphism was performed for genotyping of single-nucleotide polymorphism. Catalase enzyme activity was significantly decreased while SOD and GSH were substantially increased (p ≤ 0.01) in infertile men in comparison to non-infertile. CAT gene variant rs7943316 had shown significant association in dominant, recessive model and allelic frequencies. The study concludes that rs7943316 has a substantial role in male infertility. The outcome of the study may help in resolving idiopathic infertility cases and may help in evolving novel diagnostic and therapeutic approaches. Other variants of CAT and antioxidant genes are suggested to ascertain further insight.

中文翻译：

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抗氧化酶和 CAT SNP-21 A/T (rs7943316) 与男性不育症的关联

不孕症是一种多因素和多基因的疾病。尽管有现代诊断技术，绝大多数不孕症仍然无法解释。氧化应激被认为是男性不育的一个因素，但在功能基因多态性方面的病因学和对人类受试者的实验研究几乎没有报道。该研究的目的是调查三种抗氧化酶的状态；过氧化氢酶、超氧化物歧化酶 (SOD) 和谷胱甘肽减少 (GSH) 在临床诊断的不育男性中发现并发现CAT的潜在关联启动子区域 -21 A/T (rs7943316) 中的基因变体。该研究由 55 名临床诊断为不育男性和 50 名非不育志愿者组成。通过分光光度计测量抗氧化酶的活性。聚合酶链反应-限制性片段长度多态性用于单核苷酸多态性的基因分型。 与非不育男性相比，不育男性的过氧化氢酶活性显着降低，而 SOD 和 GSH 显着增加 ( p ≤ 0.01)。猫基因变异 rs7943316 在显性、隐性模型和等位基因频率中显示出显着关联。该研究得出结论，rs7943316 在男性不育症中具有重要作用。该研究的结果可能有助于解决特发性不孕症病例，并可能有助于发展新的诊断和治疗方法。建议CAT和抗氧化基因的其他变体以确定进一步的认识。