Aboelros, S., Azab, H., Abo Elroose, A., Hassan, N. (2025). Association of CYP21 Gene Polymorphism rs13405728, CYP11A1 Gene Polymorphism rs4077582 and Insulin Receptor Gene rs2059806 in Polycystic Ovarian Syndrome Patients in Egypt: A Pilot Study. Suez Canal University Medical Journal, 28(5), 9-26.
Sara A. Aboelros; Hasnaa Azab; Ahmed Abo Elroose; Nashwa R. Hassan. "Association of CYP21 Gene Polymorphism rs13405728, CYP11A1 Gene Polymorphism rs4077582 and Insulin Receptor Gene rs2059806 in Polycystic Ovarian Syndrome Patients in Egypt: A Pilot Study". Suez Canal University Medical Journal, 28, 5, 2025, 9-26.
Aboelros, S., Azab, H., Abo Elroose, A., Hassan, N. (2025). 'Association of CYP21 Gene Polymorphism rs13405728, CYP11A1 Gene Polymorphism rs4077582 and Insulin Receptor Gene rs2059806 in Polycystic Ovarian Syndrome Patients in Egypt: A Pilot Study', Suez Canal University Medical Journal, 28(5), pp. 9-26.
Aboelros, S., Azab, H., Abo Elroose, A., Hassan, N. Association of CYP21 Gene Polymorphism rs13405728, CYP11A1 Gene Polymorphism rs4077582 and Insulin Receptor Gene rs2059806 in Polycystic Ovarian Syndrome Patients in Egypt: A Pilot Study. Suez Canal University Medical Journal, 2025; 28(5): 9-26.
Association of CYP21 Gene Polymorphism rs13405728, CYP11A1 Gene Polymorphism rs4077582 and Insulin Receptor Gene rs2059806 in Polycystic Ovarian Syndrome Patients in Egypt: A Pilot Study
1Department of Clinical and Chemical Pathology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
2Department of Medical Microbiology and Immunology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
3Department of Obstetrics and Gynaecology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
Abstract
Background: Polycystic Ovary Syndrome (PCOS) is a prevalent endocrine disorder characterized by hyperandrogenism, insulin resistance, and ovulatory dysfunction. Genetic factors, including polymorphisms in steroidogenic (CYP21, CYP11A1) and insulin signaling (INSR) genes, may contribute to PCOS pathogenesis. Aim: This study investigated the association of CYP21 rs13405728, CYP11A1 rs4077582, and INSR rs2059806 polymorphisms with PCOS in Egyptian women. Subjects/Materials and Methods: A case-control study included 50 PCOS patients and 50 age-matched controls. Anthropometric, hormonal (LH, FSH, HOMA-IR), and genotypic analyses were performed. SNPs were genotyped using TaqMan assays. Statistical analyses included Hardy-Weinberg equilibrium, logistic regression, and ROC curves. Results: PCOS patients had higher BMI, waist circumference, LH/FSH ratio, and HOMA-IR (p < 0.001). The INSR rs2059806 AG/GG genotypes (OR: 3.08–5.25), CYP21 rs13405728 CT/TT (OR: 3.41–6.42), and CYP11A1 rs4077582 CT/TT (OR: 3.46–6.31) were significantly associated with PCOS (p < 0.01). Risk alleles (G for INSR, T for CYP21/CYP11A1) were more frequent in cases (p < 0.001). These SNPs correlated with elevated LH/FSH and HOMA-IR in PCOS patients. ROC analysis showed LH, LH/FSH ratio, and HOMA-IR had excellent diagnostic accuracy (AUC = 0.998–1.0). Conclusions: CYP21 rs13405728, CYP11A1 rs4077582, and INSR rs2059806 polymorphisms are significantly associated with PCOS in Egyptian women, influencing hormonal and metabolic disturbances. These SNPs may serve as potential biomarkers for PCOS risk stratification.
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