Analisis Polimorfisme Gen CYP17A1 Pada Karsinoma Endometrium Tipe I

Abstract

Background: Type I endometrial cancer is the most common form of endometrial malignancy, with a prevalence that continues to increase with advancing age and other hormone-related risk factors. This disease is often associated with hormonal imbalance, particularly estrogen, which plays a role in the growth and development of endometrial cells. Therefore, the regulation of estrogen synthesis is crucial in controlling the risk of endometrial carcinoma. The CYP17A1 gene (Cytochrome P450 Family 17 Subfamily A Member 1) is one of the genes involved in the synthesis of sex hormones, including estrogen. This study aimed to determine the association between CYP17A1 gene polymorphism and Type I endometrial carcinoma in women treated at Adam Malik General Hospital and its affiliated hospitals of the Faculty of Medicine, Universitas Sumatera Utara (USU). Methods: This was an observational analytic study with a case–control design to assess CYP17A1 gene polymorphism in cases of Type I endometrial carcinoma at Adam Malik General Hospital and its network hospitals. The study involved a total of 25 case subjects diagnosed with Type I endometrial carcinoma with histopathological findings of endometrioid adenocarcinoma and 25 control subjects. Results: Logistic regression and chi-square analyses showed a significant association between CYP17A1 gene polymorphism and the risk of endometrial carcinoma. Compared with the reference TT genotype, individuals with the TC genotype had a 4.722-fold higher risk of developing endometrial carcinoma (OR = 4.722; 95% CI: 1.36–16.394; p = 0.015). At the allele level, the frequency of the C allele was significantly higher in the case group (42%) than in the control group (22%), while the T allele was more dominant in the control group (78% vs 58%). The chi-square test showed a significant difference in allele distribution between the two groups (p = 0.032), with C-allele carriers having 2.567 times higher odds of developing endometrial carcinoma (OR = 2.567; 95% CI: 1.072 6.150). Conclusion: There is an association between CYP17A1 gene polymorphism and Type I endometrial carcinoma in women at Adam Malik General Hospital and the affiliated hospitals of the Faculty of Medicine, USU.