Related Experiment Video
Updated: Feb 15, 2026
04:41
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
19.5K
eQTL in diseased colon tissue identifies potential target genes associated with IBD
Nina C Nishiyama1,2, Sophie Silverstein2,3, Kimberly Darlington2,4
1Curriculum in Bioinformatics and Computational Biology, Department of Genetics, School of Medicine, Department of Biology, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Nature Communications
|February 13, 2026
Summary
Using expression quantitative trait loci (eQTL) analysis in inflammatory bowel diseases (IBD) colon tissue, researchers identified 194 potential target genes for 108 IBD loci. Diseased tissue eQTL studies are crucial for understanding IBD variant consequences.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Genome-wide association studies (GWAS) have identified over 300 loci linked to inflammatory bowel diseases (IBD).
- The specific genes targeted by these IBD-associated loci remain largely unknown.
- Understanding these genetic links is crucial for IBD pathogenesis research.
Purpose of the Study:
- To identify potential target genes for IBD-associated loci using a disease-focused expression quantitative trait loci (eQTL) analysis.
- To investigate whether using IBD patient colon tissue can reveal regulatory variations missed in non-IBD cohorts.
- To explore the impact of disease state on the regulatory landscape and its association with IBD risk variants.
Main Methods:
- Conducted a disease-focused eQTL analysis on colon tissue samples from 252 IBD patients.
- Compared eQTL data from IBD colon tissue with data from non-IBD colon tissue.
- Analyzed eQTL results for enrichment with IBD GWAS colocalizations and identified potential target genes.
Main Results:
- Identified 194 potential target genes for 108 IBD loci by integrating eQTL data from both IBD and non-IBD colon tissues.
- Observed enrichment of eQTL in IBD tissue for IBD GWAS colocalizations.
- Provided evidence for specific genes like ABO and TNFRSF14, and discovered additional potential target genes compared to analyses using only non-IBD tissue.
- Found that disease state may alter the regulatory landscape, potentially increasing eQTL effect sizes.
Conclusions:
- Disease-specific eQTL analysis in IBD colon tissue is valuable for identifying target genes of IBD-associated variants.
- The regulatory landscape can be altered by the disease state, influencing the effects of genetic variants.
- These findings underscore the importance of studying diseased tissue to fully understand the functional consequences of IBD-associated genetic loci.
Related Concept Videos
01:21Drugs for Treatment of Crohn's Disease in IBD Using Glucocorticoids
532
Glucocorticoids, a class of anti-inflammatory drugs, are pivotal in treating moderate to severe Crohn's disease by inducing remission. They exhibit their anti-inflammatory action by inhibiting the production of inflammatory cytokines such as tumor necrosis factor (TNF)-α, interleukin (IL)-1, and chemokines like IL-8. In addition, they reduce the expression of inflammatory cell adhesion molecules and inhibit gene transcription of nitric oxide synthase, phospholipase A2, cyclooxygenase-2...
532
01:29Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents
561
Crohn's disease is an inflammatory bowel disorder marked by chronic inflammation of the GI tract. Various treatment strategies for Crohn's disease are employed, such as immunomodulatory agents, glucocorticoids, and biologics or anti-TNF therapy. Azathioprine (Imuran), a commonly used immunomodulatory drug for Crohn's disease, is converted in the body to mercaptopurine, which inhibits purine biosynthesis and cell proliferation. Both are utilized in severe cases of Inflammatory Bowel...
561
01:24Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF
598
Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...
598
02:22The Colonization of Land
37.9K
Changes in the environment of the early Earth drove the evolution of organisms. As prokaryotic organisms in the oceans began to photosynthesize, they produced oxygen. Eventually, oxygen saturated the oceans and entered the air, resulting in an increase in atmospheric oxygen concentration, known as the oxygen revolution approximately 2.3 billion years ago. Therefore, organisms that could use oxygen for cellular respiration had an advantage. More than 1.5 years ago, eukaryotic cells and...
37.9K
01:29Drugs for Treatment of Ulcerative Colitis in IBD
541
Ulcerative colitis is a chronic inflammatory condition primarily affecting the colon and rectum. The primary drugs used in the treatment of ulcerative colitis are aminosalicylates. They exhibit anti-inflammatory and immunosuppressive properties. They modulate inflammatory mediators and inhibit the activity of nuclear factor κB (NF-κB). Aminosalicylates also reduce inflammation by inhibiting prostaglandin and leukotriene production and decreasing neutrophil chemotaxis and superoxide...
541
00:59Gene Therapy
27.7K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.7K