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Related Concept Videos

Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory Bowel Disease I: Ulcerative Colitis

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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...
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Inflammatory Bowel Disease II: Crohn's Disease01:30

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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...
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Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
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Chronic Bowel Disorders: Introduction01:17

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Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
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Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy01:30

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Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
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Inflammatory Bowel Disease IV: Pharmacological Management01:29

Inflammatory Bowel Disease IV: Pharmacological Management

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Upon diagnosis, managing Inflammatory Bowel Disease (IBD) involves addressing several crucial aspects. The primary goals include resting the bowel, correcting malnutrition, and providing symptomatic relief. Resting the bowel may consist of medications to reduce inflammation and promote healing. Correcting malnutrition is essential, often requiring dietary adjustments and nutritional supplements. Symptomatic relief aims to ease pain, diarrhea, and other discomforts in IBD.
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Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis.

Italia Loddo1, Claudio Romano1

  • 1Inflammatory Bowel Disease Unit, Pediatric Department, University of Messina , Messina , Italy.

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|November 19, 2015
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Summary

Genetic factors contribute to inflammatory bowel diseases (IBD). Rare genetic disorders and common polygenic susceptibility influence IBD, highlighting the interplay of genetics, environment, and microbiota in disease development.

Keywords:
Crohn’s diseaseIBDearly-onset IBDepigeneticsgeneticsinflammatory bowel disease

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Area of Science:

  • Gastroenterology
  • Immunology
  • Genetics

Background:

  • Inflammatory bowel diseases (IBD) are chronic intestinal inflammatory conditions with complex, multifactorial origins.
  • Genetic factors, environmental influences, microbiota, and immune responses are implicated in IBD pathogenesis.
  • Epidemiological studies show a significant genetic contribution, with familial aggregation and twin study concordance rates in Crohn's Disease (CD).

Purpose of the Study:

  • To review the current understanding of genetic factors in IBD pathogenesis.
  • To highlight the role of both common polygenic susceptibility and rare monogenic disorders in IBD.
  • To discuss the implications of genetic findings for understanding IBD etiology and potential future research directions.

Main Methods:

  • Review of large-scale genome-wide association studies (GWAS) and trans-ethnic analyses for IBD susceptibility loci.
  • Identification and analysis of rare genetic disorders associated with early-onset IBD.
  • Discussion of advances in sequencing techniques for identifying IBD-related genetic variants.
  • Exploration of epigenetic mechanisms in IBD development.

Main Results:

  • Genome-wide association studies have identified numerous IBD susceptibility loci.
  • Rare genetic variants causing monogenic disorders significantly impact intestinal immune homeostasis and are linked to early-onset IBD.
  • Approximately 50 genetic disorders have been identified with IBD-like immunopathology, often missed by traditional GWAS due to low allele frequency.

Conclusions:

  • Genetic factors play a crucial role in IBD susceptibility, ranging from polygenic inheritance to rare monogenic defects.
  • Understanding genetic underpinnings, especially in early-onset IBD, is critical for diagnosis and potential therapeutic strategies.
  • Epigenetic factors represent a promising area for future research, mediating gene-environment interactions in IBD pathogenesis.