Article

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits

2025-08-15

Abstract excerpt

Polycystic ovary syndrome (PCOS) is a complex, multi-system, heritable endocrinopathy that is a common cause of anovulatory infertility in reproductive-aged women. While insulin resistance (IR) is not a diagnostic feature, it is widespread in women with PCOS, and often more severe than in women of similar age and BMI. Conversely, women with rare Mendelian disorders of IR also present with features of PCOS. We hypo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2532865f-fa55-5880-99a5-71e6860be6b3
DOI: 10.1101/2025.08.13.25333592

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traitsDOI 10.1101/2025.08.13.25333592Read

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome CohortSemantic proximity Read

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.Semantic proximity Read

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 TreatmentSemantic proximity Read

Genome-Wide Discovery Reveals Adipose-Specific and Systemic Regulators of Insulin ResistanceSemantic proximity Read

Polycystic Ovary Syndrome Susceptibility Loci Inform Disease Etiological HeterogeneitySemantic proximity Read

Integrative multi-omics analysis of druggable genes for therapeutic target identification in polycystic ovary syndrome.Semantic proximity Read

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis CriteriaSemantic proximity Read

Genetic Variants Affecting Insulin Signaling Pathways and Risk of Diabetes: A Comprehensive Systematic ReviewSemantic proximity Read

Genetics of Insulin Resistance and the Metabolic Syndrome.Semantic proximity Read

From proteome to pathogenesis: investigating polycystic ovary syndrome with Mendelian randomization analysis.Semantic proximity Read

Evidence-based genetic variants to gene mapping and prioritization uncovers distinct molecular pathophysiology and therapeutic landscape in polycystic ovary syndrome patients of different ethnicities.Semantic proximity Read

Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome.Semantic proximity Read