Investigation of The Genetic Basis of Polycystic Ovarian Syndrome Through Exome Sequencing Studies in The Saudi Women
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Date
2024
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ARABIAN GULF UNIVERSITY
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.
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Keywords
PCOS, WES, Saudi women, NGS, variants/mutations, genes, IR, SNPs