Thanks to the sequencing of the human genome and to the dynamic advances in molecular biology techniques, genome‑wide level studies became feasible. Identification of genomic risk factors that determine the variability in susceptibility to common diseases consists in searching the genome for genetic variants/polymorphisms associated with the disease (genome‑wide association study – GWAS). Numerous studies were conducted to elucidate the pathogenesis of polycystic ovary syndrome, albeit to no effect as of yet. It is believed that more than 70% of cases of polycystic ovary syndrome are of genetic origin. The conducted studies focus mainly on the variabilities in genes involved in regulation of sex hormones, genes responsible for insulin sensitivity, genes responsible for increased risk of cardiovascular diseases, and genes involved in steroid biosynthesis and detoxification. The main goal of the study is to identify a single gene/polymorphism to be used as a PCOS marker.