Related Experiment Video
Updated: May 24, 2026
07:50
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Mucosal genome-wide methylation changes in inflammatory bowel disease
James Cooke1, Hu Zhang, Liliana Greger
1IBD Genetics Research Unit, Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Inflammatory Bowel Diseases
|March 16, 2012
Summary
Investigating DNA methylation in the gut revealed significant differences in inflammatory bowel disease (IBD) patients. These epigenetic alterations in key genes suggest a role in IBD development and progression.
Area of Science:
- Epigenetics
- Molecular Biology
- Genomics
Background:
- DNA methylation is a critical epigenetic mechanism regulating gene transcription.
- It plays roles in immune response and cell differentiation.
- Altered DNA methylation patterns in the intestine are investigated for their link to inflammatory bowel disease (IBD) susceptibility and activity.
Purpose of the Study:
- To investigate the impact of intestinal DNA methylation differences on inflammatory bowel disease (IBD) susceptibility and activity.
Main Methods:
- Genome-wide methylation profiling using the HumanMethylation27 BeadChip microarray on rectal biopsy DNA.
- Validation of selected methylation signals via pyrosequencing.
- Correlation analysis with gene expression using quantitative real-time polymerase chain reaction (RT-PCR).
Main Results:
- Significant differential methylation identified in multiple genes, including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7, in both ulcerative colitis and Crohn's disease.
- Overlapping genes with known IBD susceptibility loci, such as CARD9, ICAM3, and IL8RB, were observed more frequently than expected by chance.
- A correlation between DNA methylation status and gene expression levels was found for specific transcripts.
Conclusions:
- Consistent DNA methylation differences at regulatory sites in key genes between IBD patients and controls suggest their altered transcription contributes to IBD pathogenesis.
- These findings highlight the role of epigenetic modifications in the development of inflammatory bowel disease.
Related Concept Videos
01:25Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
01:20Inflammatory Bowel Disease II: Ulcerative Colitis
Ulcerative colitis is a chronic inflammatory disorder of the colon characterized by continuous mucosal inflammation that typically begins in the rectum and extends proximally in a uniform pattern. Its pathogenesis involves a complex interplay of genetic predisposition, immune dysregulation, and environmental influences. These factors converge to impair the colon’s epithelial defenses and promote an exaggerated inflammatory response against luminal contents.Breakdown of the Mucosal BarrierA...
01:20Inflammatory Bowel Disease IV: Clinical Manifestations
Inflammatory bowel disease (IBD) encompasses two major chronic disorders—ulcerative colitis and Crohn’s disease—each characterized by relapsing episodes of gastrointestinal inflammation. Although they share certain clinical features, their patterns of involvement and manifestations differ in ways that aid diagnosis and guide management.Ulcerative ColitisUlcerative colitis is limited to the colon and rectum and involves continuous inflammation of the mucosal layer. The disease course is marked...
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
01:26Inflammatory Bowel Disease I: Introduction
Inflammatory bowel disease is a group of chronic disorders marked by recurrent inflammation of the gastrointestinal tract due to an abnormal immune response against gut microflora. This leads to tissue damage. The two main forms are Crohn’s disease and ulcerative colitis.Crohn’s DiseaseCrohn’s disease is a relapsing inflammatory disorder that can affect any part of the GI tract, from the mouth to the anus. It involves all layers of the bowel wall (transmural) and shows “skip lesions” in which...
01:30Inflammatory Bowel Disease II: Crohn's Disease
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by transmural...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by transmural...