Genetic and Clinical Predictors of PCOS: Role of PON1 Q192R Polymorphism in Infertile Women at Nigerian Tertiary IVF Center | ||||
| The Egyptian Journal of Hospital Medicine | ||||
| Article 31, Volume 100, Issue 1, July 2025, Page 2734-2742 PDF (699.03 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/ejhm.2025.436805 | ||||
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| Abstract | ||||
| Background: Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder associated with oxidative stress and metabolic dysfunction. Paraoxonase1 (PON1), an antioxidant enzyme, exhibits functional polymorphisms that may influence PCOS susceptibility. This study investigates the association between the PON1 Q192R polymorphism and PCOS among Nigerian women. Methods: A total of 90 women aged 25-40 years were recruited, comprising 50 infertile women with PCOS and 40 age- matched fertile controls. Genomic DNA was extracted from peripheral blood, and genotyping performed using PCR-RFLP with the Mbol restriction enzyme. A subset of samples was validated via Sanger sequencing. Clinical parameters, including body mass index (BMI) and family history of infertility were recorded. Statistical analysis included Chi-square tests for genotype and allele frequencies, and binary logistic regression to assess independent risk factor. Results: The frequency of RR genotype and R allele was significantly higher in women with PCOS compared to controls (p < 0.01). Women with the RR and QR genotype had increased risk of PCOS (OR = 5.33, 95% Cl: 1.72 – 16.45 for RR and OR = 4.38 for QR, 95% Cl: 1.82 – 10.51). Higher BMI and a positive family history of infertility were also significantly associated with PCOS (p < 0.05). Sequencing confirmed 100% concordance with PCR-RFLP results. Conclusion: The PON1 Q192R polymorphism, particularly the RR genotype, is significantly associated with PCOS in Nigerian women. Elevated BMI and family history of infertility further contribute to the risk, suggesting a multifactorial interaction in the pathophysiology of PCOS. These results back the function of oxidative stress-related genetic variants in reproductive disorders and warrant further large-scale studies. | ||||
| Keywords | ||||
| PON1; Q192R; Polymorphism; PCR-RFLP; PCOS; Infertility; Oxidative stress; Nigeria | ||||
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