Related Experiment Video

Updated: Jun 5, 2026

Chronic Salmonella Infection Induced Intestinal Fibrosis
08:40

Chronic Salmonella Infection Induced Intestinal Fibrosis

Published on: September 22, 2019

Association of CARD8 with inflammatory bowel disease in Koreans

Suk-Kyun Yang1, Hyeri Kim, Myunghee Hong

  • 1Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Journal of Human Genetics
|January 21, 2011
PubMed

Insights

Genetic variants in CARD8 (Caspase recruitment domain-containing protein 8) are associated with inflammatory bowel disease (IBD) in Koreans. Specific CARD8 SNPs linked to ulcerative colitis and Crohn

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Caspase recruitment domain (CARD)-containing protein 8 (CARD8) is implicated in inflammatory bowel disease (IBD) due to its roles in the NALP3 inflammasome and NF-κB inhibition.
  • Previous studies on CARD8 single-nucleotide polymorphisms (SNPs) and IBD in Caucasians yielded inconsistent results, possibly due to gene-gene interactions.

Purpose of the Study:

  • To investigate the genetic association of CARD8, NALP3, and NOD2 variants with IBD in the Korean population.
  • To clarify the role of specific CARD8 SNPs in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC) in Koreans.

Main Methods:

  • Genotyping of seven CARD8, four NALP3, and four NOD2 SNPs in 650 CD patients, 660 UC patients, and 688 controls.
  • Statistical analysis to determine the association between SNPs and IBD phenotypes.
  • Analysis of serum interleukin-1β levels in relation to CARD8 variants.

Main Results:

  • The CARD8 SNP rs2043211 (p.Cys10X) was significantly associated with UC (P = 0.011), particularly under a recessive model (P = 0.006).
  • Another CARD8 SNP, rs1972619, showed a significant association with CD (P = 0.033).
  • No significant associations were found for NALP3 or NOD2 SNPs with CD or UC in this Korean cohort. The rs2043211 stop allele correlated with higher IL-1β levels in female UC patients.

Conclusions:

  • CARD8 variants may play a role in the development of IBD (CD and UC) in the Korean population.
  • The findings highlight the potential importance of CARD8 in IBD pathogenesis specific to certain ethnic groups.
  • Further research is warranted to elucidate the functional mechanisms underlying these genetic associations.

More Related Videos

A TNBS-Induced Rodent Model to Study the Pathogenic Role of Mechanical Stress in Crohn's Disease05:08

A TNBS-Induced Rodent Model to Study the Pathogenic Role of Mechanical Stress in Crohn's Disease

Published on: March 1, 2022

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 II: Ulcerative Colitis01:20

Inflammatory 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...
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...