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Article

sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome.

Scientific reports - 6 Jan 2026

Xu Xiaoqian, Bao Yuzhou, Zhang Qi, Wang Lixia, Wang Hao

Abstract excerpt

Polycystic ovary syndrome (PCOS) is a complex endocrine disorder characterized by metabolic, inflammatory, and reproductive dysfunction. We integrated genome-wide association study (GWAS) data, and single-cell expression quantitative trait loci (sc-eQTL) across various immune cells to elucidate the genetic and immune mechanisms underlying PCOS at the cellular level. Finally, we identified 19 risk loci for PCOS,...

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Identifiers

PMID: 41495349
DOI: 10.1038/s41598-025-34726-5
PMCID: PMC12864734

Genes

MAPRE1
CD4

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