Open AccessAssociation of a Functional Single Nucleotide Polymorphism (rs874040) in the RBPJ Gene with Susceptibility to Rheumatoid Arthritis in Iranian Population
Author(s) -
Mansour Salesi,
Mahdieh Oboodiyat,
Roya Salehi,
Bahram Pakzad
Publication year - 2021
Publication title -
avicenna journal of medical biotechnology.
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.399
H-Index - 22
eISSN - 2008-4625
pISSN - 2008-2835
DOI - 10.18502/ajmb.v13i3.6368
Subject(s) - single nucleotide polymorphism , genotype , allele , rheumatoid arthritis , genetics , biology , snp , population , gene , medicine , immunology , environmental health
Rheumatoid Arthritis (RA) is a progressive, heterogeneous, and common multifactorial autoimmune disease. Several Genome-Wide Association Studies (GWASs) have revealed more than 100 risk loci for RA. One of these loci is a functional single nucleotide polymorphism (rs874040; G>C) near the recombination signal-binding protein for the immunoglobulin kappa J region ( RBPJ ) gene. RBPJ can convert into a transcriptional activator upon activation of the canonical Notch pathway. Notch signaling has recently emerged as an important regulator of immune responses in inflammation and autoimmune diseases. In the present study, the possible association between SNP rs874040 (G>C) upstream of the RBPJ gene with RA risk was assessed in Iranian population.