The Role of Oxidative Stress-Related Genes in Polycystic Ovary Syndrome: Insights into Genetic Susceptibility and Pathogenesis



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Abstract

Oxidative stress has recently been shown to play a central role in the pathophysiology of numerous diseases, including polycystic ovary syndrome (PCOS). This is a hormonal condition that is highly prevalent in premenopausal women. The exact etiology of PCOS is still unknown; however, several factors are believed to be associated with the condition, including excessive androgen secretion from the ovaries, insulin resistance, partial folliculogenesis arrest, chronic low-grade secretion of inflammatory mediators, and, more recently, oxidative stress. In women with PCOS, oxidative stress has a role in ovarian dysfunction, systemic inflammation, and metabolic dysregulation. It intensifies the main characteristics, such as disruption of folliculogenesis, hyperandrogenism, and insulin resistance. Polymorphisms in genes related to oxidative stress can alter the body's susceptibility to the syndrome by influencing the imbalance between the generation of reactive oxygen species (ROS) and the decreased antioxidant defenses. The genes that are part of antioxidant defense systems, such as SOD2, GPX1, GPX4, CAT, and PON1, are highlighted in this review along with their associations with PCOS risk and clinical outcomes. Rs4880 in SOD2 and rs4880 and rs713041 in GPX4 have been associated with PCOS, while the significance of other variants in disease development remains unclear and requires further investigation. Understanding the genetic basis of oxidative stress has the potential to enhance biomarker discovery and clarify the molecular pathways involved in the development and progression of PCOS.

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Светлана Витальевна Ломтева

CENTER OF HUMAN REPRODUCTION AND IVF; Southern Federal University

Author for correspondence.
Email: embryolab61@gmail.com
ORCID iD: 0000-0002-8791-1936
Scopus Author ID: 6507751405

embryologist, Senior researcher, Ph.D. of Biological Sciences

 

Russian Federation

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