TY  - JOUR
T1  - Hereditary Genetic Mutations in Polycystic Ovary Syndrome (PCOS): Current State of the Problem
A1  - Margarita Romanovna Osinnyaya
A1  - Eduard Ruslanovich Shestakov
A1  - Eva Viktorovna Ovcharova
A1  - Madina Serjikovna Muradalieva
A1  - Maria Vladimirovna Shuchkina
A1  - Zaira Guseynovna Omarova
A1  - Ekaterina Vyacheslavovna Shabanova
A1  - Victoria Vladimirovna Lysyuk
A1  - Daria Sergeevna Kovyrshina
A1  - Vladislav Vladimirovich Pererva
JF  - Journal of Biochemical Technology
JO  - J Biochem Technol
SN  - 0974-2328
Y1  - 2026
VL  - 17
IS  - 2
DO  - 10.51847/Gm40S1UA1T
SP  - 144
EP  - 155
N2  - Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, with a prevalence of 5-15% depending on the diagnostic criteria used. Clinically, the syndrome is characterized by hyperandrogenism and ovulatory dysfunction and is frequently accompanied by insulin resistance, obesity, and an increased risk of type 2 diabetes mellitus. Genealogical and twin studies indicate high heritability of PCOS (70-80%), which has stimulated active investigation of genetic factors. In recent years, genome-wide association studies (GWAS) have identified dozens of loci associated with PCOS risk, including DENND1A, LHCGR, FSHR, THADA, INSR, YAP1, GATA4, and *AMH/AMHR2*. The present review summarizes current data (2018-2025) on hereditary genetic variants in PCOS, analyzing their functional roles in the regulation of the gonadotropic axis, metabolic pathways, and steroidogenesis. We discuss how genetic variability contributes to the phenotypic heterogeneity of the syndrome – ranging from predominantly reproductive to pronounced metabolic forms. Along with common polymorphisms, rare variants associated with familial and atypical cases of PCOS are also reviewed. Finally, we evaluate the prospects for clinical application of the knowledge gained, including the development of polygenic risk scores and personalized treatment strategies, as well as discussing the limitations of current GWAS and controversies in the interpretation of their findings.
UR  - https://jbiochemtech.com/article/hereditary-genetic-mutations-in-polycystic-ovary-syndrome-pcos-current-state-of-the-problem-mutghzum8iswptv
ER  -