The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype

Abstract

This study provides the 'association and linkage proof' establishing IRF5 as a RA susceptibility gene and the identification of a genetic factor that seems to contribute to the modulation of the erosive phenotype. Further studies are warranted to clarify the role of IRF5 in RA and its subphenotypes.

Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

“…In a Spanish RA case-control study, the 5' SNP rs2004640, rs752637, and rs10954213 and the SNP rs10488631 were found to have stronger associations with ACPA-negative RA 10 . A study with French and Western European RA family trios reported the risk effects of the 3 SNP rs3757385, rs2004640, and rs10954213, where the signals were also stronger in the RF-negative RA subgroup 11 . Meanwhile, contradictory results were observed from a Euro-American and a Korean RA case-control study.…”

Gene/environment interactions in the pathogenesis of autoimmunity: New insights on the role of Toll-like receptors

“…IRF5 confers susceptibility to RA and was able to influence its erosive phenotype in European Caucasians [135]. Moreover this correlation was furtherly confirmed in a Korean [136], Tunisian [137] and Japanese [138] populations.…”

“…[83]); RA [67]; RA in European Caucasian [135], Korean [136], Tunisian [137] and Japanese populations [138];…”

The possible role of genetic variants in autoimmune-related genes in the development of endometriosis

“…Indeed, an increased expression of type I IFN genes by peripheral blood mononuclear cells, also referred to as an IFN signature, has been detected in multiple autoimmune diseases. IRF5 gene encodes a member of the IRF family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity [106].…”