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Genetics of celiac disease
Isis Ricaño-Ponce1, Cisca Wijmenga1, Javier Gutierrez-Achury1
1University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, The Netherlands.
Best Practice & Research. Clinical Gastroenterology
|June 11, 2015
Summary
Recent genetics and genomics research reveals new molecular insights into celiac disease (CeD). Understanding the immune response in CeD offers potential for novel therapies beyond the gluten-free diet.
Area of Science:
- Immunology
- Genetics
- Genomics
Background:
- Celiac disease (CeD) is increasingly understood through advances in genetics and genomics.
- Genetic studies have identified numerous non-HLA loci associated with CeD.
- Functional genomics studies are pinpointing specific genes, pathways, and regulatory elements involved in CeD.
Purpose of the Study:
- To review recent genetic and genomic findings in celiac disease.
- To contextualize these findings within the broader understanding of CeD pathophysiology.
- To explore how genetic insights can inform clinical care and therapeutic development for CeD.
Main Methods:
- Utilizing data from the Immunochip genotyping platform.
- Conducting follow-up functional genomics studies.
- Integrating genetic information with gene expression data.
Main Results:
- Discovery of 39 non-HLA loci associated with celiac disease.
- Identification of novel disease genes, biological pathways, and regulatory elements.
- Evidence of a dysregulated immune response in CeD, potentially involving various immune cells.
Conclusions:
- Genetic and genomic research provides crucial insights into celiac disease pathophysiology.
- Understanding the immune dysregulation in CeD opens avenues for alternative therapies.
- These genetic findings can assist in the clinical management of celiac disease patients.
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