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

• DOI: 10.1038/s41467-022-31626-4
• Publication Date: 2022-07-14T04:05:43Z
• Authors: James J. Gilchrist; Seiko Makino; Vivek Naranbhai; Piyush K. Sharma; Surya Koturan; Orion Tong; Chelsea A. Taylor; Robert A. Watson; Alba Verge de los...; Rosalin Cooper; Evelyn Lau; Sara Danielli; Dan Hameiri-Bowen; Wanseon Lee; Esther Ng; Justin Whalley; Julian C. Knight; Benjamin P. Fairfax
• Keywords: Immunosurveillance

Natural Killer cells are innate lymphocytes with central roles in immunosurveillance and implicated autoimmune pathogenesis. The degree to which regulatory variants affect cell gene expression is poorly understood. Here we perform quantitative trait locus mapping of negatively selected from a population healthy Europeans (n = 245). We find significant subset genes demonstrate loci specific these highly informative human disease, particular autoimmunity. A transcriptome-wide association study across five common diseases identifies further novel associations at 27 genes. In addition cis observations, master-regulatory regions impacting trans networks including 19q13.4, the Immunoglobulin-like Receptor region, GNLY, MC1R UVSSA. Our findings provide new insights into unique biology cells, demonstrating markedly different other immune implications for disease mechanisms.