ArticleJournal of human reproductive sciences
Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS.
Article in Journal of human reproductive sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment.Scientific reports · 2024Article
- A Comprehensive Genome-wide DNA Methylation Analysis in Blood Reveals Differentially Methylated Regions Associated with Immune Response and Steroidogenesis Pathways in Women with Polycystic Ovary Syndrome: A cross sectional study.Journal of human reproductive sciencesArticle
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Authors and funding
4 authors.
Funding
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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 Statistical Analysis Used: Student's Results: A total of four rare exonic variants in obesity- and hyperinsulinaemia-related genes including Conclusion: This study shows a prevalence of rare variants in obesity and hyperinsulinaemia-related genes in a cohort of PCOS women, thereby underscoring the impact of the identified rare variants on the development of obesity and associated metabolic derangements in PCOS women.
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