Investigation of The Genetic Basis of Polycystic Ovarian Syndrome Through Exome Sequencing Studies in The Saudi Women

Abstract

Polycystic ovarian syndrome (PCOS) is one of the raising endocrine and metabolic disorders in the reproductive-aged women. Rotterdam criteria is used in this study to screen the PCOS women based on hyperandrogenism, oligo-anovulation, and polycystic ovaries. Obesity is considered as a major factor for the development of PCOS along with the exacerbations of PCOS. Different formats of studies have been conducted in the PCOS women from Saudi Arabia, but none of them accurately recorded genetic basis of PCOS in Saudi women. This has led to a lack of focus on the PCOS disease in Saudi Arabia, which is now a common condition among Saudi women. Moreover, there are no exome sequencing studies were documented in the Saudi women with PCOS. Therefore, the aim of this study was to investigate the whole exome sequencing (WES) analysis in the Saudi women diagnosed with PCOS. This study selected 18 PCOS women based on the Rotterdam criteria and 8 healthy controls for the WES analysis. Additionally, we have enrolled anthropometric, biochemical, clinical details and measurements in all the 18 PCOS women and 8 control. A total of 5ml of peripheral blood was collected, 3ml was used for serum analysis, and 2 mL was used for molecular analysis. Genomic DNA was isolated, nanodrop was quantified, and then WES analysis was studied. The result in this study, altogether 96 missense variants in several genes were documented in 18 patients, which are related to PCOS. The study concludes that women with PCOS have primarily documented the rs141382822, rs747554207, rs74575904, rs56216806, and rs61752535 variants. These variants are associated with both endocrine and metabolic disorders associated with PCOS, and they play a significant role in the Saudi population.