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PMID: 22580835 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Seminars in immunopathology ·Vol. 34 ·No. 4 ·2012-07-00 ·Pages 567-80

Kumar V, Wijmenga C, Withoff S

Abstract

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.

MeSH Terms
Animals Autoimmune Diseases/genetics,immunology Celiac Disease/genetics,immunology Chromosome Mapping Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Quantitative Trait Loci Regulatory Elements, Transcriptional
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Kumar Vinod
Department of Genetics, University Medical Hospital Groningen, University of Groningen, PO Box 30001, 9700 RB, Groningen, the Netherlands.
Wijmenga Cisca
Withoff Sebo
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Article Info
Journal
Seminars in immunopathology
Abbr.
Semin Immunopathol
ISSN
1863-2300
DOI
10.1007/s00281-012-0312-1
Published
2012-07-00
Epub
2012-00-14
Pages
567-80
Language
English
Region
Germany
NLM ID
101308769
PMCID
PMC3410018
Subset
IM
External Links
PubMed source DOI: 10.1007/s00281-012-0312-1 PMC Full Text View journal details
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