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The IRF5 polymorphism in type 1 diabetes
  1. Hui-Qi Qu,
  2. Luc Marchand,
  3. Rosemary Grabs,
  4. Constantin Polychronakos
  1. Endocrine Genetics Lab, The McGill University Health Center (Montreal Children’s Hospital), Montréal, Québec, Canada
  1. Correspondence to:
 Dr Constantin Polychronakos
 The McGill University Health Center (Montreal Children’s Hospital), 2300 Tupper, Montréal, Quebec H3H 1P3, Canada; constantin.polychronakos{at}


The interferon regulatory factor 5 gene (IRF5) has been shown to play a crucial role in harmful immune responses by induction of proinflammatory cytokines. Functional genetic variants associated with increasd IRF5 expression of specific isoforms are associated with systemic lupus erythematosus (SLE) and it is possible that they may also predispose to other autoimmune disorders. We tested the association of two IRF5 SNPs, correlated with IRF5 expression and SLE risk, in 947 nuclear family trios type 1 diabetes (T1D) using the transmission disequilibrium test. Our results suggest that the functional IRF5 variations do not confer an obvious risk for T1D.

  • IL, interleukin
  • IRF5, interferon regulatory factor 5
  • MAF, minor allele frequency
  • OMIM, Online Mendelian Inheritance in Man
  • SLE, systemic lupus erythematosus
  • SNP, single nucleotide polymorphism
  • T1D, type 1 diabetes
  • TLR, Toll-like receptor

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  • Competing interests: None declared.

  • Published Online First 8 June 2007