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Immune disease variants modulate gene expression in regulatory CD4 T cells. | LitMetric

AI Article Synopsis

  • * The study mapped quantitative trait loci (QTL) linked to gene expression and chromatin activity in Treg cells, identifying 133 colocalizing loci that associate with immune disease variants.
  • * It highlighted seven known drug targets for repurposing and suggested 63 potential targets for drug development, marking a significant step in understanding how immune disease variants impact Treg cell function.

Article Abstract

Identifying cellular functions dysregulated by disease-associated variants could implicate novel pathways for drug targeting or modulation in cell therapies. However, follow-up studies can be challenging if disease-relevant cell types are difficult to sample. Variants associated with immune diseases point toward the role of CD4 regulatory T cells (Treg cells). We mapped genetic regulation (quantitative trait loci [QTL]) of gene expression and chromatin activity in Treg cells, and we identified 133 colocalizing loci with immune disease variants. Colocalizations of immune disease genome-wide association study (GWAS) variants with expression QTLs (eQTLs) controlling the expression of and , involved in Treg cell activation and interleukin-2 (IL-2) signaling, support the contribution of Treg cells to the pathobiology of immune diseases. Finally, we identified seven known drug targets suitable for drug repurposing and suggested 63 targets with drug tractability evidence among the GWAS signals that colocalized with Treg cell QTLs. Our study is the first in-depth characterization of immune disease variant effects on Treg cell gene expression modulation and dysregulation of Treg cell function.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010307PMC
http://dx.doi.org/10.1016/j.xgen.2022.100117DOI Listing

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