Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies.

ABSTRACT:

Background

Polymorphisms in the interferon regulatory factor 5 (IRF5) gene are associated with susceptibility to systemic lupus erythematosus, rheumatoid arthritis and other diseases through independent risk and protective haplotypes. Several functional polymorphisms are already known, but they do not account for the protective haplotypes that are tagged by the minor allele of rs729302.

Methods

Polymorphisms in linkage disequilibrium (LD) with rs729302 or particularly associated with IRF5 expression were selected for functional screening, which involved electrophoretic mobility shift assays (EMSAs) and reporter gene assays.

Results

A total of 54 single-nucleotide polymorphisms in the 5' region of IRF5 were genotyped. Twenty-four of them were selected for functional sc

SUBMITTER: Alonso-Perez E 

PROVIDER: S-EPMC3978921 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature