ArticleNature communications2022
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 32 citations in OpenAlex.
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- Black phosphorus nanosheets boost mitochondrial oxidative phosphorylation improving immunotherapy outcomes.Nature nanotechnology · 2025Article
- Immune cell-based transcriptomic Mendelian randomization and colocalization study on type 1 diabetes.BMC medicine · 2025Article
- Genetic determinants of monocyte splicing are enriched for disease susceptibility loci.Nature communications · 2025Article
- Granulysin-high decidual NK cells in macaques and humans share signatures of immune defense.Cell reports · 2025Article
- FarmGTEx TWAS-server: An Interactive Web Server for Customized TWAS Analysis.Genomics, proteomics & bioinformatics · 2025Article
- Extensive co-regulation of neighboring genes complicates the use of eQTLs in target gene prioritization.HGG advances · 2024Article
- Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis.medRxiv : the preprint server for health sciences · 2024Article
- A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy.American journal of human genetics · 2024Article
- CD56Frontiers in immunology · 2024Article
- Identifying genetic variants that influence the abundance of cell states in single-cell data.bioRxiv : the preprint server for biology · 2023Article
- eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.PLoS genetics · 2023Article
- Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.bioRxiv : the preprint server for biology · 2023Article
- Genome-wide association study of leprosy in Malawi and Mali.PLoS pathogens · 2022Article
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18 authors at 2 institutions in 1 country.
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Abstract
Natural Killer cells are innate lymphocytes with central roles in immunosurveillance and are implicated in autoimmune pathogenesis. The degree to which regulatory variants affect Natural Killer cell gene expression is poorly understood. Here we perform expression quantitative trait locus mapping of negatively selected Natural Killer cells from a population of healthy Europeans (n = 245). We find a significant subset of genes demonstrate expression quantitative trait loci specific to Natural Killer cells and these are highly informative of human disease, in particular autoimmunity. A Natural Killer cell transcriptome-wide association study across five common autoimmune diseases identifies further novel associations at 27 genes. In addition to these cis observations, we find novel master-regulatory regions impacting expression of trans gene networks at regions including 19q13.4, the Killer cell Immunoglobulin-like Receptor region, GNLY, MC1R and UVSSA. Our findings provide new insights into the unique biology of Natural Killer cells, demonstrating markedly different expression quantitative trait loci from other immune cells, with implications for disease mechanisms.
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