Sc-eQTL Unveil Immunogenetic Architecture of Polycystic Ovary Syndrome

    January 2026 in “ Scientific Reports ”
    Xiaoqian Xu, Yuzhou Bao, Qiang Zhang … H. M. Wang
    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.
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    Research cited in this study 8

    1. SUN-164 Expanding the Genetic Landscape of PCOS: Novel and Shared Risk Loci in African Ancestry Populations Journal of the Endocrine Society · 2025
    2. Physiopathology of Polycystic Ovary Syndrome in Endocrinology, Metabolism, and Inflammation Journal of Ovarian Research · 2025
    3. 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 Scientific Reports · 2024
    4. Polycystic Ovary Syndrome Nature Reviews Disease Primers · 2024
    5. Polycystic Ovary Syndrome: Etiology, Current Management, and Future Therapeutics Journal of Clinical Medicine · 2023
    6. Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria PLOS Genetics · 2018
    7. Development of Polycystic Ovary Syndrome: Involvement of Genetic and Environmental Factors Andrology · 2005
    8. Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis Journal of Endocrinology · 2002