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Celiac disease susceptibility: The genome and beyond
Iraia García-Santisteban1, Irati Romero-Garmendia1, Ariadna Cilleros-Portet1
1Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, Leioa, Spain.
International Review of Cell and Molecular Biology
|March 12, 2021
Summary
Celiac Disease (CeD) genetics are well-studied, with Genome-Wide Association Studies (GWAS) identifying key genes. Further research into epigenetics, like the methylome and non-coding RNAs, is crucial for understanding CeD pathogenesis.
Area of Science:
- Genetics and Genomics
- Immunology
- Gastroenterology
Background:
- Celiac Disease (CeD) is an immune-mediated disorder triggered by gluten in genetically susceptible individuals.
- Human Leucocyte Antigen (HLA) DQ2/DQ8 are necessary but not sufficient for CeD development, indicating other genetic factors.
- Genomic advances have significantly improved understanding of CeD's genetic component over the last 15 years.
Purpose of the Study:
- To review Genome-Wide Association Studies (GWAS) and post-GWAS discoveries in Celiac Disease.
- To explore the epigenetics and epigenomics of CeD, including methylome and non-coding RNA landscape.
- To highlight unvisited areas in post-genomic CeD research.
Main Methods:
- Review of major Genome-Wide Association Studies (GWAS) in Celiac Disease.
- Integration of diverse strategies and SNP prioritization for post-GWAS discoveries.
- Exploration of CeD-related epigenetics, methylome, and non-coding RNA (ncRNA) data.
Main Results:
- CeD has one of the best-characterized genetic components among immune-related disorders.
- Post-GWAS discoveries have provided insights into CeD pathogenesis, including microbiome interactions.
- Emerging knowledge on the celiac methylome and ncRNA landscape is expanding.
Conclusions:
- Significant progress has been made in understanding CeD genetics and epigenetics.
- Unexplored areas in post-genomic CeD research remain.
- Chromatin conformation, accessibility, and epitranscriptomics are promising future research domains for CeD.
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