Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing.

ABSTRACT: Rheumatoid arthritis (RA) is a highly prevalent chronic autoimmune disease. However, genetic and environmental factors involved in RA pathogenesis are still remained largely unknown. To identify the genetic causal variants underlying pathogenesis and disease progression of RA patients, we undertook the first comprehensive whole-exome sequencing (WES) study in a total of 124 subjects including 58 RA cases and 66 healthy controls in Han Chinese population. We identified 378 novel genes that were enriched with deleterious variants in RA patients using a gene burden test. The further functional effects of associated genetic genes were classified and assessed, including 21 newly identified genes that were involved in the extracellular matrix (ECM)-receptor interaction, protein digestion and abs

SUBMITTER: Li Y 

PROVIDER: S-EPMC5762310 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature