Determination of the relationship between CYP19 Gene SNP rs2414096 polymorphism and polycycstic ovary syndrome in Turkish women

Kızılkale Yıldırım, Özge. Determination of the relationship between CYP19 gene SNP rs2414096 polymorphism and polycystic ovary syndrome in Turkish women. Yeditepe University Institute of Health Sciences, Department of Molecular Medicine. Doctorate Thesis, İstanbul,2024 Aim: Polycystic ovary syndrome (PCOS) is a complex, chronic and multifactorial disorder affecting a significant proportion of women worldwide. This endocrine disorder, which affects 5–15% of women worldwide between the ages of 18 and 44, results in anovulation, oligomenorrhea, hyperandrogenism, and infertility due to the many 8 mm- sized cysts in the ovarian sac. Genetic anomalies are thought to be one of the main underlying etiological aspects of PCOS, despite the fact its aetiology is poorly understood. Still, it is evident that more than one gene—possibly multiple genes— contributes to the varied phenotype.The aim of this study is to investigate the impact of CYP19 SNP rs2414096 on Turkish women's vulnerability to PCOS development. Material and Methods: 50 patients and 50 control groups were included in the study. 4 ml of venous blood was used for DNA isolation. Genotyping was performed by real time PCR to investigate cyp19 rs2414096 polymorphism. Results: Across all participants, the genotypic frequency distribution for CYP19 rs2414096 was % 13.4 for genotype AA, % 54.6 for AG, and 32 % for GG. There was no significant association between genotype distribution and polycystic ovary syndrome. Discussion and Conclusion: CYP 19 gene rs2414096 SNP is not correlated with PCOS, CYP 19 may perhaps be a modifier rather than playing a direct key role. More comprehensive and functional studies and the discovery of more novel genetic markers are needed to understand the role of genetic factors in polycystic ovary syndrome's etiology. Keywords: Policycstic Ovary Syndrome, rs1424096, polymorphism, CYP19