Q Liu1, H Liu2, H Bai1, W Huang2, R Zhang1, J Tan2, L Guan1, P Fan3. 1. 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. 2. Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, People's Republic of China. 3. Laboratory of Genetic Disease and Perinatal Medicine, West China Second University Hospital, SichuanUniversity, Chengdu, 610041, Sichuan, People's Republic of China. fanping15@scu.edu.cn.
Abstract
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: The SOD2 A16V, but not PON2 S311C, polymorphism may be one of the genetic determinants for PCOS in Chinese women.
PURPOSE: 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. METHODS: 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. RESULTS: The prevalence of the A allele of SOD2A16V 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 PON2S311C 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. CONCLUSION: The SOD2A16V, but not PON2S311C, polymorphism may be one of the genetic determinants for PCOS in Chinese women.
Authors: Afrah F Alkhuriji; Suliman Y AlOmar; Zainb A Babay; Manal F El-Khadragy; Amani R Alsharidah; Alharbi Hanan; Alaa A Alnafjan; Lamjed Mansour Journal: Mol Syndromol Date: 2021-10-22