Y Pu1, Q Liu1, H Liu2, H Bai1, W Huang2, M Xi2, 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, 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. fanping15@scu.edu.cn.
Abstract
PURPOSE: To investigate the association of cytochrome P450 2E1 (CYP2E1) C-1054T (rs2031920) and 96-bp I/D genetic variations with the risk of polycystic ovary syndrome (PCOS), and to estimate the effects of genotypes on the clinical, metabolic, hormonal, and oxidative stress indicators. METHODS: This case-control study included 762 control women and 1034 patients with PCOS. Genotypes were determined using polymerase chain reaction and/or restriction fragment length polymorphism analysis. Clinical and biochemical parameters were also analyzed. RESULTS: Frequencies of the TT + CT genotype (35.4 vs. 28.9%) and T allele (19.6 vs. 16.0%) of the CYP2E1 C-1054T polymorphism were significantly higher in the PCOS group than in the control group (OR = 1.350, 95% CI 1.103-1.652, P = 0.004 for the dominant model). Genotype TT + CT remained a significant predictor of PCOS in a logistic regression model including age, body mass index (BMI), and recruitment year of participants (OR = 1.345, 95% CI 1.071-1.688, P = 0.011). No statistical differences were found in the genotype and allele frequencies of CYP2E1 96-bp I/D polymorphism. However, the combined genotype DD/TT + CT was related to an increased risk of PCOS when the DD/CC wild-type combined genotype was used as a reference. Patients with the I allele of 96-bp I/D polymorphism had a lower BMI but higher plasma apolipoprotein B and oxidized low-density lipoprotein cholesterol levels than those with the DD genotype. CONCLUSION: CYP2E1 C-1054T, but not 96-bp I/D, genetic polymorphism is associated with an increased risk of PCOS in Chinese women.
PURPOSE: To investigate the association of cytochrome P450 2E1 (CYP2E1) C-1054T (rs2031920) and 96-bp I/D genetic variations with the risk of polycystic ovary syndrome (PCOS), and to estimate the effects of genotypes on the clinical, metabolic, hormonal, and oxidative stress indicators. METHODS: This case-control study included 762 control women and 1034 patients with PCOS. Genotypes were determined using polymerase chain reaction and/or restriction fragment length polymorphism analysis. Clinical and biochemical parameters were also analyzed. RESULTS: Frequencies of the TT + CT genotype (35.4 vs. 28.9%) and T allele (19.6 vs. 16.0%) of the CYP2E1 C-1054T polymorphism were significantly higher in the PCOS group than in the control group (OR = 1.350, 95% CI 1.103-1.652, P = 0.004 for the dominant model). Genotype TT + CT remained a significant predictor of PCOS in a logistic regression model including age, body mass index (BMI), and recruitment year of participants (OR = 1.345, 95% CI 1.071-1.688, P = 0.011). No statistical differences were found in the genotype and allele frequencies of CYP2E1 96-bp I/D polymorphism. However, the combined genotype DD/TT + CT was related to an increased risk of PCOS when the DD/CC wild-type combined genotype was used as a reference. Patients with the I allele of 96-bp I/D polymorphism had a lower BMI but higher plasma apolipoprotein B and oxidized low-density lipoprotein cholesterol levels than those with the DD genotype. CONCLUSION: CYP2E1 C-1054T, but not 96-bp I/D, genetic polymorphism is associated with an increased risk of PCOS in Chinese women.
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