AUTHOR=Sun Yuan , Li Suiyan , Liu Hongwei , Gong Yan , Bai Huai , Huang Wei , Liu Qingqing , Guan Linbo , Fan Ping 

TITLE=Association of GPx1 P198L and CAT C-262T Genetic Variations With Polycystic Ovary Syndrome in Chinese Women

JOURNAL=Frontiers in Endocrinology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00771

DOI=10.3389/fendo.2019.00771

ISSN=1664-2392

ABSTRACT=<p><bold>Background:</bold> Oxidative stress plays an important role in the pathogenesis of polycystic ovary syndrome (PCOS). Glutathione peroxidase 1 (GPx1<italic>)</italic> and catalase (CAT<italic>)</italic> are the major intracellular antioxidant enzymes that can detoxify hydrogen peroxide into water, preventing cellular injury from reactive oxygen species. The aim of the present study was to investigate the association of <italic>GPx1 P198L</italic> (<italic>Pro198Leu, C559T, rs1050450</italic>) and <italic>CAT C-262T</italic> (<italic>rs1001179</italic>) genetic polymorphisms with the risk of PCOS and evaluate the effects of the genotypes on clinical, hormonal, metabolic and oxidative stress parameters in Chinese women.</p><p><bold>Methods:</bold> This is a case-control study of 654 patients with PCOS and 535 controls. The <italic>GPx1 P198L, CAT C-262T</italic>, and superoxide dismutase 2 (<italic>SOD2</italic>) <italic>A16V</italic> genotypes were determined by polymerase chain reaction amplification and restriction analysis. Clinical, hormonal, metabolic and oxidative stress parameters were also analyzed.</p><p><bold>Results:</bold> The frequencies of the <italic>PL</italic> + <italic>LL</italic> genotype (14.1 vs. 8.4%) and <italic>L</italic> allele (7.3 vs. 4.4%) of <italic>GPx1 P198L</italic> polymorphism were significantly higher in patients with PCOS than in control subjects. Genotype (<italic>PL</italic> + <italic>LL</italic>) remained a significant predictor for PCOS in prognostic models including age, body mass index (BMI), insulin resistance index, total cholesterol, triglycerides, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol as covariates (OR = 2.105, 95%CI: 1.330–3.331, <italic>P</italic> = 0.001). Patients carrying the <italic>L</italic> allele had relatively high average ovarian volume, waist circumference, and malondialdehyde levels (<italic>P</italic> &lt; 0.07) compared with patients with the <italic>PP</italic> genotype. We also demonstrated that the subjects with both <italic>GPx1 L</italic> and <italic>SOD2 A</italic> alleles further increase the risk of PCOS compared with the individuals carrying the <italic>PP/VV</italic> genotype after adjusting for age and BMI (OR = 5.774, 95%CI: 2.243–14.863, <italic>P</italic> &lt; 0.001). However, no significant differences were observed in the frequencies of the <italic>CAT C-262T</italic> genotypes and alleles between PCOS and control groups.</p><p><bold>Conclusions:</bold> The <italic>GPx1 P198L</italic>, but not <italic>CAT C-262T</italic>, genetic polymorphism is associated with the risk of PCOS in Chinese women.</p>