Nowosad Karolina, Ostrowska Małgorzata, Glibowski Paweł, Iłowiecka Katarzyna, Koch Wojciech
Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin, Poland.
Nutrition Clinic, Department of Clinical Dietetics, Medical University of Lublin, 7 Chodzki St., 20-093 Lublin, Poland.
Genes (Basel). 2025 Jul 18;16(7):840. doi: 10.3390/genes16070840.
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 (, , , ) and the clinical manifestations of PCOS in a Polish female population.
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.
No significant differences were found in genotype distributions for , , , or between PCOS and control groups. The polymorphisms showed deviations from Hardy-Weinberg equilibrium, possibly reflecting population-specific effects.
Although most analyzed variants were not directly associated with PCOS in this cohort, the observed link between 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.
背景/目的：多囊卵巢综合征（PCOS）是一种受环境和遗传因素影响的多因素疾病。本研究的目的是评估特定多态性（、、、）与波兰女性人群中PCOS临床表现之间的关联。
共纳入50名女性（25例PCOS患者和25名健康对照）。使用基于聚合酶链反应（PCR）的方法鉴定基因变异。比较两组之间基因型和等位基因的频率。评估与基因型相关的临床症状，如月经不规律、多毛、痤疮、雄激素性脱发和超重。
PCOS组和对照组之间在、、、或的基因型分布上未发现显著差异。多态性显示偏离哈迪-温伯格平衡，可能反映了人群特异性效应。
尽管在该队列中大多数分析的变异与PCOS无直接关联，但观察到的rs1799817与痤疮之间的联系表明其在雄激素相关症状中起作用。这些发现为波兰女性PCOS的遗传背景提供了新的见解，并支持在不同人群中结合遗传和表型数据进行进一步研究的必要性。
