Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, People's Republic of China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, People's Republic of China.
J Endocrinol Invest. 2019 Aug;42(8):909-921. doi: 10.1007/s40618-018-0999-5. Epub 2019 Jan 3.
To investigate the relationship between superoxide dismutase 2 (SOD2) A16V and paraoxonase 2 (PON2) S311C gene variants and the risk of polycystic ovary syndrome (PCOS) and evaluate the effects of the genotypes on clinical, hormonal, metabolic and oxidative stress indexes in Chinese women.
This is a cross-sectional study of 932 patients with PCOS and 745 control women. For the clinical and metabolic association study of genotypes, 631 patients and 492 controls were included after excluding the subjects with interferential factors. Genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. Serum total oxidant status, total antioxidant capacity (T-AOC), oxidative stress index and malondialdehyde (MDA) levels, and clinical and metabolic parameters were also analyzed.
The prevalence of the A allele of SOD2 A16V polymorphism was significantly greater in patients with PCOS than in control subjects. Genotype (AA + AV) remained a significant predictor for PCOS in prognostic models including age, body mass index, insulin resistance index, high-density lipoprotein (HDL), low-density lipoprotein (LDL), and triglycerides (TGs) as covariates. Patients carrying the A allele had significantly higher serum luteinizing hormone (LH) levels, and the ratio of LH to follicle-stimulating hormone compared with patients with the VV genotype. We also showed that patients carrying the C allele of the PON2 S311C polymorphism had lower T-AOC compared with patients carrying the SS genotype. However, no significant differences were observed in the frequencies of the S311C genotypes and alleles of the PON2 gene between PCOS and control groups.
The SOD2 A16V, but not PON2 S311C, polymorphism may be one of the genetic determinants for PCOS in Chinese women.
研究超氧化物歧化酶 2（SOD2）A16V 和对氧磷酶 2（PON2）S311C 基因变异与多囊卵巢综合征（PCOS）风险的关系，并评估基因型对中国女性临床、激素、代谢和氧化应激指标的影响。
这是一项横断面研究，纳入 932 例 PCOS 患者和 745 例对照女性。为了进行基因型与临床和代谢的关联研究，在排除有干扰因素的受试者后，纳入了 631 例患者和 492 例对照。通过聚合酶链反应（PCR）和限制性片段长度多态性分析确定基因型。还分析了血清总氧化剂状态、总抗氧化能力（T-AOC）、氧化应激指数和丙二醛（MDA）水平以及临床和代谢参数。
SOD2 A16V 多态性的 A 等位基因在 PCOS 患者中的发生率明显高于对照组。在包括年龄、体重指数、胰岛素抵抗指数、高密度脂蛋白（HDL）、低密度脂蛋白（LDL）和甘油三酯（TGs）在内的预后模型中，基因型（AA+AV）仍然是 PCOS 的显著预测因子。携带 A 等位基因的患者血清黄体生成素（LH）水平显著升高，LH 与卵泡刺激素的比值与 VV 基因型患者相比也更高。我们还发现，携带 PON2 S311C 多态性 C 等位基因的患者 T-AOC 水平低于携带 SS 基因型的患者。然而，PON2 基因的 S311C 基因型和等位基因在 PCOS 组和对照组中的频率没有显著差异。
SOD2 A16V 多态性，而非 PON2 S311C 多态性，可能是中国女性 PCOS 的遗传决定因素之一。
