Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis

Autoimmunity. 2013 Nov;46(7):455-62. doi: 10.3109/08916934.2013.796937. Epub 2013 Jun 4.


Published data on the association between the IFIH1 rs1990760 polymorphism and multiple autoimmune diseases are controversial and inconclusive. To more precisely estimate the association between the IFIH1 rs1990760 polymorphism and susceptibility to autoimmune diseases, a meta-analysis was conducted. Studies examining the association of the IFIH1 rs1990760 polymorphism with autoimmune diseases were exhaustively searched using PubMed, Web of Science and a review of the references. A total of 19 studies with 26 comparisons including 8 type 1 diabetes (T1D), 5 systemic lupus erythematosus (SLE), 5 Graves' disease (GD), 2 multiple sclerosis (MS), 2 rheumatoid arthritis (RA), 2 Hashimoto's thyroiditis (HT), 2 autoimmune Addison's disease (AAD) were available for this meta-analysis. Meta-analysis was performed for genotype T/T + T/C (dominant model), genotype T/T (recessive model) and T-allele in fixed or random-effects models. The overall odds ratios (ORs) and 95% confidence intervals (CIs) for T-allele were T1D (OR = 1.184, 95% CI = 1.142-1.229), SLE (OR = 1.143, 95% CI = 1.073-1.217), MS (OR = 1.181, 95% CI = 1.062-1.313) and RA (OR = 1.115, 95% CI = 1.004-1.239), respectively. For T1D and SLE, significant association was observed in the population of European ancestry, but not in the Asian population. This meta-analysis demonstrates that the IFIH1 rs1990760 T-allele confers susceptibility to T1D, SLE, MS and RA and suggests that the IFIH1 rs1990760 polymorphism might have no effect on GD and AAD. Our result provides further evidence for the notion of common gene underlying multiple autoimmune diseases.

Publication types

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

MeSH terms

  • Alleles
  • Autoimmune Diseases / genetics*
  • Case-Control Studies
  • DEAD-box RNA Helicases / genetics*
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Interferon-Induced Helicase, IFIH1
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide / genetics
  • Randomized Controlled Trials as Topic / methods


  • IFIH1 protein, human
  • DEAD-box RNA Helicases
  • Interferon-Induced Helicase, IFIH1