Integrative genomic deconvolution of rheumatoid arthritis GWAS loci into gene and cell type associations.

ABSTRACT:

Background

Although genome-wide association studies (GWAS) have identified over 100 genetic loci associated with rheumatoid arthritis (RA), our ability to translate these results into disease understanding and novel therapeutics is limited. Most RA GWAS loci reside outside of protein-coding regions and likely affect distal transcriptional enhancers. Furthermore, GWAS do not identify the cell types where the associated causal gene functions. Thus, mapping the transcriptional regulatory roles of GWAS hits and the relevant cell types will lead to better understanding of RA pathogenesis.

Results

We combine the whole-genome sequences and blood transcription profiles of 377 RA patients and identify over 6000 unique genes with expression quantitative trait loci (eQTLs). We demonstr

SUBMITTER: Walsh AM 

PROVIDER: S-EPMC4853861 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature