Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS

TL;DR

This study examines how specific gene variations relate to PCOS symptoms in Polish women, finding limited genetic links but suggesting a possible role for one gene variant in acne.

Contribution

The study provides new insights into the genetic background of PCOS in Polish women, particularly the potential role of INSR rs1799817 in acne.

Findings

No significant differences in CYP19, FTO, INSR, or MC4R genotype distributions were found between PCOS and control groups.

MC4R polymorphisms showed deviations from Hardy–Weinberg equilibrium, indicating possible population-specific effects.

INSR rs1799817 was observed to be linked to acne, suggesting a role in androgen-related symptoms.

Abstract

Background/Objectives: Polycystic ovary syndrome (PCOS) is a multifactorial disorder influenced by both environmental and genetic factors. The aim of this study was to evaluate associations between selected polymorphisms (CYP19, INSR, FTO, MC4R) and the clinical manifestations of PCOS in a Polish female population. Methods: A total of 50 women (25 with PCOS and 25 healthy controls) were included. Genetic variants were identified using Polymerase Chain Reaction (PCR)-based methods. The frequencies of genotypes and alleles were compared between groups. Clinical symptoms such as irregular menstruation, hirsutism, acne, androgenetic alopecia, and overweight were assessed in relation to genotype. Results: No significant differences were found in genotype distributions for CYP19, FTO, INSR, or MC4R between PCOS and control groups. The MC4R polymorphisms showed deviations from Hardy–Weinberg equilibrium, possibly reflecting population-specific effects. Conclusions: Although most analyzed variants were not directly associated with PCOS in this cohort, the observed link between INSR rs1799817 and acne suggests a role in androgen-related symptoms. These findings contribute new insights to the genetic background of PCOS in Polish women and support the need for further studies combining genetic and phenotypic data in diverse populations.