Journal
CELL
Volume 161, Issue 2, Pages 387-403Publisher
CELL PRESS
DOI: 10.1016/j.cell.2015.02.046
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Funding
- Vaccine Research Center (NIAID, NIH)
- Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre
- Wellcome Trust
- ERC
- Medical Research Council [MR/J006742/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0514-10027] Funding Source: researchfish
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Despite recent discoveries of genetic variants associated with autoimmunity and infection, genetic control of the human immune system during homeostasis is poorly understood. We undertook a comprehensive immunophenotyping approach, analyzing 78,000 immune traits in 669 female twins. From the top 151 heritable traits (up to 96% heritable), we used replicated GWAS to obtain 297 SNP associations at 11 genetic loci, explaining up to 36% of the variation of 19 traits. We found multiple associations with canonical traits of all major immune cell subsets and uncovered insights into genetic control for regulatory T cells. This data set also revealed traits associated with loci known to confer autoimmune susceptibility, providing mechanistic hypotheses linking immune traits with the etiology of disease. Our data establish a bioresource that links genetic control elements associated with normal immune traits to common autoimmune and infectious diseases, providing a shortcut to identifying potential mechanisms of immune-related diseases.
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