Abstract
Polycystic ovary syndrome (PCOS) is the most common endocrine disease among premenopausal women. The genetic risk of PCOS in the Saudi population is still unclear. Therefore, it is of interest to study the genotype and allele frequency for six gene variants (THADA rs13429458, TOX3 rs4784165, FSHRrs2268361, YAP1 rs1894116, RAB5B rs705702, and HMGA2 rs2272046) in patients with PCOS in western Saudi population. The study included 95 PCOS patients and 94 normal ovulatory females as controls. Genotyping was performed using TaqMan (TM) real-time polymerase chain reaction assays. There was significant link between the THADA rs13429458 variant and PCOS. Homozygosity in allele A of the rs13429458 variant was correlated with hyperandrogenism (HA) risk. Homozygosity in the T allele of the FSHR rs2268361 variant was associated with normal levels of AMH among non-PCOS women. The THADA rs13429458 and TOX3 rs4784165 variants were significantly associated with the combined oligo/amenorrhea (OA) and polycystic ovarian morphology subgroups while the HMGA2 rs2272046 variant was significantly associated with the combined HA and OA subgroup. Thus, results show the genetic risk of the THADA rs13429458, TOX3 rs4784165, and HMGA2 rs2272046 variants on PCOS patients in the western Saudi population.