ArticleResearch square2025
Mapping the landscape of cell type-dependent genetic regulation of DNA methylation across human tissues.
Article in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
12 authors.
Funding
Abstract
DNA methylation (DNAm) is an epigenetic modification involved in gene regulation. DNAm quantitative trait loci (mQTLs) have been identified in many tissues, but bulk-tissue studies obscure cell type-specific effects. Here, we present the first multi-tissue landscape of cell type-dependent regulation of DNAm in humans by mapping cell type-interaction mQTLs (imQTLs) across seven tissue types (breast, colon, lung, ovary, prostate, kidney, and whole blood), identifying 3,150 imQTLs. Inter-individual variability in cell type proportion, rather than mean proportion, was most associated with imQTL discovery. The cell type with the most imQTLs tended to have interaction effects directionally consistent with mQTL marginal effects from bulk-tissue. imQTLs exhibited biologically relevant effect sharing across related cell types. Compared to cell-agnostic mQTLs, imQTLs exhibited stronger enrichment in regulatory elements and higher colocalization with eQTLs and GWAS loci. Our cell type deconvolution-based approach provides a scalable alternative to single-cell DNAm profiling for uncovering the cellular contexts of genetic regulation of DNAm.
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Registered trials
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