Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS.

ABSTRACT:

Background

Polycystic ovary syndrome (PCOS) is a complex genetic trait, the pathogenesis of which is governed by an interplay of genetic and epigenetic factors. However, the aetiology of PCOS is not fully understood.

Aims

The objective of this study was to investigate the genetic causes of PCOS by identifying rare variants in genes implicated in its pathophysiology.

Settings and design

This was a hospital-based observational study.

Materials and methods

We used whole-exome sequencing for 52 PCOS women to identify the rare variants in genes related to PCOS pathogenesis. Subsequently, we analysed these variants using in silico prediction software to determine their functional effects. We then assessed the relationship between these variants and the clinica

SUBMITTER: Sharma P 

PROVIDER: S-EPMC10841935 | biostudies-literature | 2023 Oct-Dec

REPOSITORIES: biostudies-literature