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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,...

Topics

Polycystic Ovary Syndrome
Humans
Female
Quantitative Trait Loci
Genome-Wide Association Study
Genetic Predisposition to Disease
Killer Cells, Natural
Single-Cell Analysis
Polymorphism, Single Nucleotide
CD4-Positive T-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

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

Genes

MAPRE1
CD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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