The polygenic nature of rheumatoid arthritis

Abstract

Current advances in the genetic basis of rheumatoid arthritis (RA) were summarized in the review. Influence of gene polymorphisms involved in different cellular processes including cytokine-mediated signal transduction, immune and inflammatory responses to exogenous stimuli was discussed. The principal role of the major histocompatibility complex (MHC) and a shared epitope (SE), as well as contribution of non-HLA genes to susceptibility to RA was considered in terms of patients’ ethnicity and the serological status for the disease. The GWAS results for revealing candidate genes closely associated with RA risk were systematized as well as some aspects of epigenetics were mentioned. The findings indicated the polygenic nature of this complex disease. This problem was considered taking into account the recent results of mapping traits (eQTLs) with global gene expression. The novel “omnigenic” conception of heritability of complex traits/diseases was reported.

Keywords

rheumatoid arthritis / immune and inflammatory responses / gene polymorphism / gene expression

RIGHTS & PERMISSIONS

Kuzhir T.D.