The identification of blood-derived response eQTLs reveals complex effects of regulatory variants on inflammatory and infectious disease risk.

ABSTRACT: Hundreds of risk loci for immune mediated inflammatory and infectious diseases have been identified by genome-wide association studies (GWAS). Yet, what causal variants and genes in risk loci underpin the observed associations remains poorly understood for most. The identification of colocalized cis-expression Quantitative Trait Loci (cis-eQTLs) is a promising way to identify candidate causative genes. The catalogue of cis-eQTLs of the immune system is likely incomplete as many cis-eQTLs may be context-specific. We built a large cohort of 406 healthy individuals and expanded the immune cis-regulome through their whole blood transcriptome obtained after stimulation with specific toll-like receptor (TLR) agonists and T-cell receptor (TCR) antagonist. We report three mechanisms that may expla

SUBMITTER: Liefferinckx C 

PROVIDER: S-EPMC12013874 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature