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- Title
Association between a common polymorphism in the human aromatase gene and Iranian polycystic ovarian syndrome patients.
- Authors
Ghezelayagz, Z.; Khosravifar, M.; Ahmadi, J.; Anisi, Kh.; Sadegi, M.; Akhlagi, A. A.; Shiva, M.; Afsharian, P.
- Abstract
Introduction: Polycystic ovarian syndrome is a common cause for infertility affecting 5-10% of women in reproductive age. Hyper-androgenemia is one of the main clinical features of this disorder. Aromatase is a member of Cytochrome P450 family and has a critical role in catalyzing the conversion of androgens to estrogens. It is responsible for keeping the homeostatic balance between estrogens and androgens so variations in its gene (CYP19A1) might be associated to syndromes of androgen excess such as PCOs. CYP19A1 is located on the long arm of chromosome 15. It is reported that several common polymorphisms such as SNP rs700519 (790C>T) on this gene are associated with serum androgen concentrations in PCO patients. Materials and Methods: To investigate whether polymorphisms on Cyp19A1 are involved in PCOs disorder in Iranian population. A case control study including 100 individuals (45 control and 55 PCO patients) was performed to investigate the association of SNP rs700519 (Arg264Cys) with PCO patients. Polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) was implemented on the DNA isolated from blood samples to genotype this SNP. Results: In this study CC and CT genotype were observed in both groups, but no homozygote TT was seen. The genotypic distributions of SNP rs700519 (CC, CT) of CYP19A1 gene in PCO patients (95.6%, 4.4%, respectively) were different from control groups (92.2%, 7.7%, respectively). Conclusion: This study suggests that the common missense polymorphism rs700519 can be associated with PCOS; although a larger case control study must be performed.
- Subjects
GENETIC polymorphisms; INFERTILITY; CYTOCHROME oxidase; ESTROGEN; ANDROGENS; CHROMOSOME abnormalities
- Publication
Iranian Journal of Reproductive Medicine, 2013, p44
- ISSN
1680-6433
- Publication type
Article