Abstract
Objective: The aim of this study was to test the association of CYP1A1 gene T6235C polymorphism with Polycystic Ovary Syndrome (PCOS). Methods: In a case control study, 100 women with PCOS (Rotterdam criteria) and 100 ages matched healthy controls were enrolled and compared with respect to CYP1A1 T6235C polymorphism. The clinical, biochemical and Sonographic parameters of wild type (TT), heterozygous (TC), and homozygous mutant (CC) genotypes in PCOS women were compared with that in controls. Results: The risk ratio of bearing TC genotype was 1.3327 (p=0.32), and CC genotype was 2.6084 (p=0.14) in women with PCOS on the whole. However in PCOS women with the Sonographic presence of Polycystic Ovaries (PCO), the risk ratio became significant for TC genotype (OR=1.872; p=0.04) but not for CC genotype (OR=4.05; p=0.08). There was also a significant association of TC and CC genotypes with ovarian volume (p=0.000) as well as with waist circumference (p=0.03). However, the Total Testosterone, Fasting Glucose: Insulin ratio, LH: FSH ratio and HDL were insignificantly altered. Conclusion: Both homozygous and heterozygous mutation of CYP1A1 confers an increased susceptibility to develop PCO. The abnormal folliculogenesis and hormone imbalance may be a result of CYP1A1 gene polymorphism due to toxin mediated endocrine disruption which along with other contributory factors may lead to full-fledged polycystic ovary syndrome.
Highlights
Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder [1] characterized by oligoanovulation with clinical or biochemical hyperandrogenemia [2]. 5-10% of women in reproductive age group are affected [3]
Genotype distribution and allele frequency of CYP1A1 T6235C polymorphism were compared between women with PCOS and controls (Table 2a).TC genotype was 1.3327 times more (p=0.32) and CC genotype was 2.6084 times more (p=0.14 ) in women with PCOS
When genotype distribution and allele frequency were compared in these PCOS women with Polycystic Ovaries (PCO) (n=82) and controls (n=100, Table 2b), the risk ratio of bearing TC genotype was 1.872 (p=0.04) and CC genotype was 4.05 (p=0.08)
Summary
Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder [1] characterized by oligoanovulation with clinical or biochemical hyperandrogenemia [2]. 5-10% of women in reproductive age group are affected [3]. CYP1A1 gene is located at 15q22-q24 and encodes cytochrome P450 enzymes involved in phase I of detoxification pathway It is involved in oxidation of estradiol to 2-0H and 4-0H catechol estrogens in ovarian and extraovarian tissues [10,11]. Endocrine disrupters like organochlorines and dioxins cause induction of CYP1A1 enzymes [17,18] and oxidative stress [19], further aggravating the above changes. All these can lead to abnormal folliculogenesis and formation of cysts in ovaries by causing cell damage and cytotoxicity to the oocyte and supporting granulosa cells
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