Individual Effects of Polymorphisms Linked to PCOS in Colombian Women: A Case-Control Exploratory Study

Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder in premenopausal women. Although the etiology of PCOS remains uncertain, the role of single nucleotide polymor-phisms (SNPs) in its pathogenesis has been extensively described. The second large genome-wide association study (GWAS) conducted in a Chinese population identified that variants in the INSR (rs2059807), TOX3 (rs4784165), YAP1 (rs1894116), HMGA2 (rs2272046), and ERBB3 (rs2292239) genes are associated with PCOS. In this exploratory study, we evaluated the genetic contribution of five polymorphisms in these genes in a sample of Colombian women. Forty-nine control women and forty-nine women with PCOS were included. Genotypic and allelic frequencies were calcu-lated under different inheritance models, and genotype/phenotype analysis was performed. We found that rs4784165-TOX3 was negatively associated with PCOS risk. Additionally, the GG+AA genotypes at rs2059807-INSR were linked to higher fasting blood glucose levels, while the GA genotype was associated with a greater number of total antral follicles. The AC genotype at rs2272046-HMGA2 was associated with older age and larger total ovarian volume. This is the first pilot study in Colombia to explore the relationship between these gene polymorphisms and PCOS, providing the first insights for the country.