Genetic variation contributes to immune cell function. An unprecedented analysis of genetic associations with immune cell traits provides insights into the complex regulation of immune cells, reveals variants that coincidently influence immune traits and autoimmune disease risk, and offers specific therapeutic targets for these diseases.
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References
Orrù, V. et al. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Nat. Genet. 52, 1036–1045 (2020).
Liston, A. & Goris, A. The origins of diversity in human immunity. Nat. Immunol. 19, 209–210 (2018).
Aguirre-Gamboa, R. et al. Differential effects of environmental and genetic factors on T and B cell immune traits. Cell Rep. 17, 2474–2487 (2016).
Orrù, V. et al. Genetic variants regulating immune cell levels in health and disease. Cell 155, 242–256 (2013).
Patin, E. et al. Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors. Nat. Immunol. 19, 302–314 (2018).
Roederer, M. et al. The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis. Cell 161, 387–403 (2015).
Lagou, V. et al. Genetic architecture of adaptive immune system identifies key immune regulators. Cell Rep. 25, 798–810 (2018).
US National Library of Medicine. ClinicalTrials.gov https://clinicaltrials.gov/ct2/show/NCT02847598 (2020).
Sirugo, G., Williams, S. M. & Tishkoff, S. A. The missing diversity in human genetic studies. Cell 177, 1080 (2019).
Popejoy, A. B. et al. The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics. Hum. Mutat. 39, 1713–1720 (2018).
Acknowledgements
P.S.R. receives grant funding from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS; P30 AR072582) and the Scleroderma Foundation.
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Ramos, P.S. Unravelling the complex genetic regulation of immune cells. Nat Rev Rheumatol 17, 131–132 (2021). https://doi.org/10.1038/s41584-020-00563-1
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DOI: https://doi.org/10.1038/s41584-020-00563-1
