ASSOCIATION OF Nrf2 GENE POLYMORPHISM WITH POLYCYSTIC OVARY SYNDROME —A CASE-CONTROL STUDY

Abstract

Background: Polycystic Ovary Syndrome (PCOS) is considered as one of the most common endocrine disorder in women of reproductive age. Exact cause of PCOS is still unknown. However, evidence for genetic basis has been reported. Reactive oxygen species and antioxidants have been documented as key factors involved in ovarian physiological metabolism. Nrf2 is a key transcription factor that regulates the expression of antioxidant proteins, therefore provides protection against oxidative stress. Objective of this study was to find the association of Nrf2 (rs6721961) gene polymorphism with pathogenesis of PCOS among Pakistani population. Methods: This case-control study was conducted in Pakistan Railway Hospital, Rawalpindi, from Oct 2020 to Sep 2021. The study included 200 PCOS patients diagnosed according to Rotterdam diagnostic criteria and 200 healthy controls. Blood samples of all participants were collected and DNA was extracted by Chelex Method. Polymerase Chain Reaction (PCR) was performed to find respective allelic frequencies of Nrf2 (rs6721961) genotype using specific primers. Results: The frequency of CC, CA and AA genotypes of rs6721961 polymorphism of Nrf2 gene were 72.5%, 27.5%, 0% in controls and 56.5%, 39.5%, 4% in cases. Significant association of CA genotype of Nrf2 gene polymorphism (rs6721961) and allele A were found with PCOS (OR: 0.54, 95% CI: 0.35–0.82, p=0.004), (OR: 0.61, 95% CI: 0.42–0.89, p=0.01) respectively. This is the first study to find out association of polymorphism in Nrf2 gene (6721961) with PCOS in any population. Conclusion: Nrf2 gene polymorphism (rs6721956) is significantly associated with PCOS among Pakistani population.

Pak J Physiol 2022;18(3):15?8