From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases

Semin Immunopathol. 2012 Jul;34(4):567-80. doi: 10.1007/s00281-012-0312-1. Epub 2012 May 14.


Celiac disease is characterized by a chronic inflammatory reaction in the intestine and is triggered by gluten, a constituent derived from grains which is present in the common daily diet in the Western world. Despite decades of research, the mechanisms behind celiac disease etiology are still not fully understood, although it is clear that both genetic and environmental factors are involved. To improve the understanding of the disease, the genetic component has been extensively studied by genome-wide association studies. These have uncovered a wealth of information that still needs further investigation to clarify its importance. In this review, we summarize and discuss the results of the genetic studies in celiac disease, focusing on the "non-HLA" genes. We also present novel approaches to identifying the causal variants in complex susceptibility loci and disease mechanisms.

Publication types

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

MeSH terms

  • Animals
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Celiac Disease / genetics*
  • Celiac Disease / immunology
  • Chromosome Mapping
  • Gene Regulatory Networks
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Quantitative Trait Loci
  • Regulatory Elements, Transcriptional