Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome.

ABSTRACT:

Objective

Genome-wide association studies have successfully identified more than 100 loci associated with susceptibility to rheumatoid arthritis (RA). However, our understanding of the functional effects of genetic variants in causing RA and their effects on disease severity and response to treatment remains limited.

Methods

In this study, we conducted expression quantitative trait locus (eQTL) analysis to dissect the link between genetic variants and gene expression comparing the disease tissue against blood using RNA-Sequencing of synovial biopsies (n=85) and blood samples (n=51) from treatment-naïve patients with RA from the Pathobiology of Early Arthritis Cohort.

Results

This identified 898 eQTL genes in synovium and genes loci in blood, with 232 genes in common t

SUBMITTER: Goldmann K 

PROVIDER: S-EPMC10894812 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature