Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis

Genet Mol Res. 2014 Jun 16;13(2):4473-85. doi: 10.4238/2014.June.16.6.


In this study, we investigated the association between 5 interferon regulatory factor-5 (IRF5) single nucleotide polymorphisms (SNPs) and autoimmune diseases using the Medline citation index. Twenty-eight studies with 74 comparisons, including 16 rheumatoid arthritis (RA), 43 systemic lupus erythematous (SLE), 2 juvenile idiopathic arthritis (JIA), 6 multiple sclerosis (MS), and 5 systemic sclerosis (SSc) studies, were examined in the meta-analysis. The SNP rs2004640 was significantly associated with SLE, MS, and SSc, but not with JIA [odds ratio (OR)=1.06, 95% confidence interval (CI)=0.90-1.24, P=0.48] or RA (OR=1.03, 95%CI=0.95-1.11, P=0.44). A significant association was observed between rs2280714 and SLE, MS, and SSc, but not RA (OR=1.01, 95%CI=0.94-1.09, P=0.80). Rs10954213 was associated with the pathogenesis of SLE, RA, MS, and SSc. rs2070197 and the exon 6 insertion were significantly associated with SLE. Haplotypes containing rs2004640T and rs2280714T were significantly associated with an increased risk of SLE, but not with RA. This meta-analysis certified that IRF5 polymorphisms confer susceptibility to SLE, MS, and SSc. To further confirm the correlations between polymorphisms of IRF5 and autoimmune disease susceptibility, studies involving a larger number of patients worldwide are necessary.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases / classification
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / pathology*
  • Databases, Bibliographic
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Lupus Erythematosus, Systemic / genetics*
  • Multiple Sclerosis / genetics*
  • Polymorphism, Single Nucleotide*
  • Scleroderma, Systemic / genetics*


  • IRF5 protein, human
  • Interferon Regulatory Factors