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September 10, 2025Open Access

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

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Observational analysis reveals that genetic variation impacts immune function in PBMCs, suggesting enhanced understanding of disease mechanisms.

Cell type-specific chromatin accessibility is shaped by genetic variation, influencing immune function and disease risk.
Analysis of 3.5 million PBMCs identified 243,273 chromatin accessibility quantitative trait loci (caQTLs) across 28 immune cell types.
Integration of caQTLs with GWAS data uncovered 30% more colocalized signals compared to eQTLs alone, enhancing disease association insights.
Using a graph neural network improved regulatory network inference by 80%, identifying additional transcription factor-target gene pairs.

Xue et al. (2025) studied this question.

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Observational analysis reveals that genetic variation impacts immune function in PBMCs, suggesting enhanced understanding of disease mechanisms.