Combined analysis of genome-wide association studies and epigenetic data has identified certain immune cell types as drivers of autoimmune disease, but current methods have not been able to pinpoint key effector immune cell states. Using single-cell data from inflammatory tissues, we identified effector cell states embedded within inflammatory tissues — including T peripheral helper cells and tissue regulatory T cells — that capture disproportionate disease heritability.
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References
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This is a summary of: Gupta, A. et al. Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability. Nat. Genet. https://doi.org/10.1038/s41588-023-01577-7 (2023).
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Integration of genetic data with dynamic gene regulatory elements identifies autoimmune effector cell states. Nat Genet 55, 2035–2036 (2023). https://doi.org/10.1038/s41588-023-01578-6
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DOI: https://doi.org/10.1038/s41588-023-01578-6
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