Related Experiment Video

Updated: Aug 7, 2026

Chronic Salmonella Infection Induced Intestinal Fibrosis
08:40

Chronic Salmonella Infection Induced Intestinal Fibrosis

Published on: September 22, 2019

Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease

Umesh Babusukumar1, Tao Wang, Erin McGuire

  • 1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA.

The American Journal of Gastroenterology
|June 15, 2006
PubMed

Insights

We confirm organic cation transporter (OCTN) gene variants are associated with pediatric Crohn's disease (CD). However, their independent role and genotype-phenotype correlations in pediatric CD require further investigation.

Area of Science:

  • Genetics
  • Gastroenterology
  • Immunology

Background:

  • The IBD5 locus on chromosome 5q31 is a known susceptibility locus for adult Crohn's disease (CD).
  • Organic cation transporter (OCTN) gene cluster polymorphisms within IBD5 have been linked to CD in adults.
  • The role of OCTN genes in pediatric CD remains largely unexplored.

Purpose of the Study:

  • To investigate the association of OCTN gene variants with pediatric-onset CD.
  • To examine genotype-phenotype correlations in children with CD.
  • To assess potential interactions between OCTN variants and CARD15 in pediatric CD.

Main Methods:

  • Genotyping of 264 Caucasian pediatric CD patients (including 172 trios) and 527 controls.
  • Analysis of OCTN1 (SLC22A4 C1672T) and OCTN2 (SLC22A5 G-207C) variants.
  • TDT and case-control analyses were performed for association studies.

Main Results:

  • TDT confirmed the association of SLC22A4 and SLC22A5 with CD.
  • A significant association was found between the SLC22A4 1672T, SLC22A5-207C diplotype and CD susceptibility (p=0.04).
  • Limited correlation was observed between the OCTN diplotype and clinical phenotype, and no significant interaction with CARD15 SNPs was found.

Conclusions:

  • OCTN variants (SLC22A4 and SLC22A5) are associated with pediatric-onset CD, consistent with adult findings.
  • No independent association of OCTN variants with pediatric CD was demonstrated when considering an extended IBD5 haplotype.
  • The association of OCTN variants in pediatric CD appears weaker than in adults, and definitive conclusions regarding their causative role are pending.
Abstract

More Related Videos

Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis09:44

Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis

Published on: October 14, 2025

Related Concept Videos

Inflammatory Bowel Disease III: Crohn's Disease01:25

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

Inflammatory 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 I: Introduction01:26

Inflammatory 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...
Inflammatory Bowel Disease IV: Clinical Manifestations01:20

Inflammatory 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...
Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory 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...
Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents01:29

Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents

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 Disease...