Lack of association of IRF5 gene polymorphisms with autoimmune thyroid disease: a case-control study. IRF5 gene and AITD

Ann Endocrinol (Paris). 2014 Feb;75(1):19-24. doi: 10.1016/j.ando.2013.12.002. Epub 2014 Feb 26.

Abstract

Background: Several studies support a link between autoimmunity and interferon regulatory factor 5 (IRF5) gene polymorphisms. We have taken the opportunity to examine association of the autoimmune disease risk gene, the interferon regulatory factor 5 (IRF5) to survey its susceptibility to autoimmune thyroid disease. "A total of 667 patients with autoimmune thyroid diseases and 301 healthy controls were genotyped for rs10954213, rs2004640, rs3807306, rs752637 and rs7808907 of IRF5 gene polymorphisms". We further investigated the association between BANK1 gene and IRF5 gene in AITD patients.

Results: For IRF5 gene, both in allele and genotype frequencies from both GD and HT patients were not significantly different from those of controls. Association between rs7808907C allele and Graves' disease showed trend towards significance (P=0.067). Haplotype results in IRF5 represented in the same block, without significant association. No significant association was found between all IRF5 SNPs and ophthalmopathy in Graves' patients. Additive interaction analysis revealed no interactions between IRF5 and BANK1 gene in AITD patients.

Conclusion: Our data fail to reveal IRF5 as a susceptibility gene to AITD and do not support additive effect of IRF5 to BANK1 gene.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Age of Onset
  • Case-Control Studies
  • China / epidemiology
  • Epistasis, Genetic
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Graves Disease / epidemiology
  • Graves Disease / genetics*
  • Graves Ophthalmopathy / genetics
  • Haplotypes
  • Hashimoto Disease / epidemiology
  • Hashimoto Disease / genetics*
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Linkage Disequilibrium
  • Male
  • Membrane Proteins / genetics
  • Polymorphism, Single Nucleotide*
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • BANK1 protein, human
  • IRF5 protein, human
  • Interferon Regulatory Factors
  • Membrane Proteins