Sc-eQTL Unveil Immunogenetic Architecture of Polycystic Ovary Syndrome

January 2026 in “ Scientific Reports ”

Xiaoqian Xu, Yuzhou Bao, Qiang Zhang, Lixia Wang, H. M. Wang

polycystic ovary syndrome PCOS genome-wide association study GWAS single-cell expression quantitative trait loci sc-eQTL T cell-mediated responses NK cells CD8 T cells CD4 T cells IRF1 MAPRE1 immune dysregulation

Studysummary In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

View this study on nature.com →

Discuss this study in the Community →

Research cited in this study

7 / 7 results

research Physiopathology of Polycystic Ovary Syndrome in Endocrinology, Metabolism, and Inflammation

70 citations , February 2025 in “Journal of Ovarian Research”

This review provides an analysis of the physiological and pathological aspects of polycystic ovary syndrome, emphasizing endocrine, metabolic, and inflammatory dimensions, but reports no new clinical results.

Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

13 citations , October 2024 in “Scientific Reports”

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

research Polycystic Ovary Syndrome

292 citations , April 2024 in “Nature Reviews Disease Primers”

Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.

research Polycystic Ovary Syndrome: Etiology, Current Management, and Future Therapeutics

380 citations , February 2023 in “Journal of Clinical Medicine”

This review discusses various potential risk factors and possible therapeutic interventions for polycystic ovary syndrome, including the modulation of gut microbiota, but reports no new findings.

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

research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria

308 citations , December 2018 in “PLOS Genetics”

This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.

research Development of Polycystic Ovary Syndrome: Involvement of Genetic and Environmental Factors

232 citations , December 2005 in “Andrology”

This review explores the hypothesis that polycystic ovary syndrome may originate in fetal life due to genetic predispositions and environmental influences, but it reports no new clinical findings.

research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis

430 citations , July 2002 in “Journal of Endocrinology”

This hypothesis paper suggests that PCOS may result from genetically determined ovarian hypersecretion of androgens, influencing hormone regulation and insulin resistance, with obesity further affecting its severity; no new clinical results are reported.