Related Experiment Video

Updated: Jun 6, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

HLA-linked susceptibility and resistance genes in Crohn's disease

A Nakajima1, N Matsuhashi, T Kodama

  • 1Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

Gastroenterology
|November 1, 1995
PubMed

Insights

This study identifies specific Human Leukocyte Antigen (HLA) genes associated with Crohn's disease in Japan. The DQB1*04 allele is linked to susceptibility, while DQA1*0102 may confer resistance to this inflammatory bowel disease.

Area of Science:

  • Immunogenetics
  • Gastroenterology
  • Human Genetics

Background:

  • Previous research indicated a link between HLA-DR4-DQ4 and Crohn's disease (CD) in Japan.
  • The precise role of Human Leukocyte Antigen (HLA) genes in CD pathogenesis remains incompletely understood.

Purpose of the Study:

  • To investigate the association between specific HLA class II genes and Crohn's disease in the Japanese population.
  • To elucidate the genetic factors contributing to CD susceptibility and resistance.

Main Methods:

  • DNA typing using polymerase chain reaction-sequence-specific oligonucleotide probes was performed.
  • HLA class II genes, including DP, were analyzed in 90 unrelated CD patients and 336 healthy controls.

Main Results:

  • Specific alleles like DRB1*0405, DRB1*0410, DQA1*03, DQB1*0401, and DQB1*0402 showed positive associations with CD.
  • Alleles DRB1*1501, DRB1*1302, and DQB1*0602 were negatively associated with CD.
  • Haplotype analysis revealed significant positive and negative associations for several HLA gene combinations.

Conclusions:

  • The HLA-DQB1*04 allele, characterized by a unique leucine at position 56, is a primary susceptibility gene for Crohn's disease in Japanese individuals.
  • The HLA-DQA1*0102 allele is suggested to be a disease resistance allele in this population.
Abstract

More Related Videos

Chronic Salmonella Infection Induced Intestinal Fibrosis08:40

Chronic Salmonella Infection Induced Intestinal Fibrosis

Published on: September 22, 2019

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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF01:24

Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF

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 (Humira),...
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...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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...