Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrine–reproductive–metabolic disorders of women at reproductive age. Many investigations have revealed that reactive oxygen species (ROS) level is significantly increased in patients with PCOS compared to healthy women. Object: The goal of the current study is to investigate the association between superoxide dismutase (SOD) variants and the risk of PCOS among Turkish women. Method and Subjects: Three hundred twelve voluntary premenopausal women (148 healthy controls and 164 patients with PCOS) 18 to 45 years of age were include the study. All volunteers underwent physical examination and biochemical hormones evaluation. Five selected variants in SOD1 (+35A/C (rs2234694) and SOD2 (-102C > T, 3’UTRT > A (rs2842980), 3’UTRA > G (rs5746136), and Ala16ValC > T (rs4880) were analysed by using polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) method. Result: 3'UTRA > G and Ala16ValC > T variants showed significant differences between study groups. In the additive model of rs5746136 variant having AG and GG genotype increased the PCOS risk 2-fold (OR: 1.7, 95% CI: 1.08-2.77, p = 0.003) and 5-fold (OR: 5, 95% CI: 1.7-14.2,p = 0.003) compared to AA genotype, respectively. To have a GG + AG genotype increased the PCOS risk 2-fold (OR: 2.95% Cl: 1.2-3.1, p = 0.003) compared to AA genotype in “G” dominant model. In case of the “G” recessive model, having a GG genotype increased the PCOS risk 4-fold (OR: 3.8, 95% CI: 1.3-10.4, p = 0.01) compared to AA + AG genotype. The TT genotype of rs4880 showed almost 2-fold (OR: 1.8, 95% CI: 1.12-3.0) increased PCOS risk in the “T” recessive model. Conclusion: It is quite likely that the variants which result in decreased function in the antioxidant defence mechanism related genes contribute to PCOS aetiology with inhibiting/reducing of ROS elimination.

简介：多囊卵巢综合征（PCOS）是育龄妇女最常见的内分泌－生殖－代谢性疾病之一。许多研究表明，与健康女性相比，PCOS患者的活性氧（ROS）水平显着提高。目的：本研究的目的是调查土耳其妇女中的超氧化物歧化酶（SOD）变异与PCOS风险之间的关系。方法和主题：这项研究包括了312名18至45岁的自愿绝经前妇女（148名健康对照者和164名PCOS患者）。所有志愿者都接受了身体检查和生化激素评估。用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法。结果：3'UTRA> G和Ala16ValC> T变体在研究组之间显示出显着差异。在具有AG和GG基因型的rs5746136变体的加性模型中，PCOS风险增加了2倍（OR：1.7，95％CI：1.08-2.77，p = 0.003）和5倍（OR：5，95％CI：1.7 -14.2，p = 0.003）。与“ G”显性模型中的AA基因型相比，具有GG + AG基因型的PCOS风险增加了2倍（OR：2.95％Cl：1.2-3.1，p = 0.003）。在“ G”隐性模型的情况下，与AA + AG基因型相比，具有GG基因型的PCOS风险增加了4倍（或：3.8，95％CI：1.3-10.4，p = 0.01）。rs4880的TT基因型在“ T”隐性模型中显示PCOS风险增加了近2倍（或：1.8，95％CI：1.12-3.0）。结论： 导致抗氧化剂防御机制相关基因功能降低的变异体很可能通过抑制/减少ROS的清除而有助于PCOS病因。