دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.
المؤلفون: Gilchrist, James J., Makino, Seiko, Naranbhai, Vivek, Sharma, Piyush K., Koturan, Surya, Tong, Orion, Taylor, Chelsea A., Watson, Robert A., de los Aires, Alba Verge, Cooper, Rosalin, Lau, Evelyn, Danielli, Sara, Hameiri-Bowen, Dan, Lee, Wanseon, Ng, Esther, Whalley, Justin, Knight, Julian C., Fairfax, Benjamin P.
المصدر: Nature Communications; 7/14/2022, Vol. 13 Issue 1, p1-13, 13p
مصطلحات موضوعية: KILLER cells, LOCUS (Genetics), KILLER cell receptors, AUTOIMMUNITY, GENE regulatory networks, GENETIC variation
مستخلص: 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. Natural Killer cells are key mediators of anti-tumour immunosurveillance and anti-viral immunity. Here, the authors map regulatory genetic variation in primary Natural Killer cells, providing new insights into their role in human health and disease. [ABSTRACT FROM AUTHOR]
Copyright of Nature Communications is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
قاعدة البيانات: Complementary Index
الوصف
تدمد:20411723
DOI:10.1038/s41467-022-31626-4