The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis.

ABSTRACT: 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 dis

SUBMITTER: Roederer M 

PROVIDER: S-EPMC4393780 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature