Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity

James J. Gilchrist (), Seiko Makino, Vivek Naranbhai, Piyush K. Sharma, Surya Koturan, Orion Tong, Chelsea A. Taylor, Robert A. Watson, Alba Verge los Aires, Rosalin Cooper, Evelyn Lau, Sara Danielli, Dan Hameiri-Bowen, Wanseon Lee, Esther Ng, Justin Whalley, Julian C. Knight () and Benjamin P. Fairfax ()
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James J. Gilchrist: University of Oxford
Seiko Makino: University of Oxford
Vivek Naranbhai: University of Oxford
Piyush K. Sharma: University of Oxford
Surya Koturan: University of Oxford
Orion Tong: University of Oxford
Chelsea A. Taylor: University of Oxford
Robert A. Watson: University of Oxford
Alba Verge los Aires: University of Oxford
Rosalin Cooper: University of Oxford
Evelyn Lau: University of Oxford
Sara Danielli: University of Oxford
Dan Hameiri-Bowen: University of Oxford
Wanseon Lee: University of Oxford
Esther Ng: University of Oxford
Justin Whalley: University of Oxford
Julian C. Knight: University of Oxford
Benjamin P. Fairfax: University of Oxford

Nature Communications, 2022, vol. 13, issue 1, 1-13

Abstract: 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.

Date: 2022
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31626-4

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DOI: 10.1038/s41467-022-31626-4

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