Related Experiment Video

Updated: May 12, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Genetic variants in CARD8 but not in NLRP3 are associated with ankylosing spondylitis

A Kastbom1, E Klingberg, D Verma

  • 1Rheumatology, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Department of Rheumatology in Östergötland, County Council of Östergötland , Linköping , Sweden.

Scandinavian Journal of Rheumatology
|April 4, 2013
PubMed

Insights

The minor allele of CARD8-C10X is associated with a decreased risk of ankylosing spondylitis (AS) in a Swedish population. This genetic factor did not correlate with intestinal inflammation markers or AS disease characteristics.

Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • The NOD-like receptor family, pyrin domain-containing 3 (NLRP3) inflammasome is crucial for interleukin-1beta (IL-1β) processing in innate immunity.
  • Caspase recruitment domain family, member 8 (CARD8) acts as an inhibitor of nuclear factor kappa B (NF-κB) and may be involved in the NLRP3 inflammasome pathway.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in CARD8 and NLRP3 and susceptibility to ankylosing spondylitis (AS).
  • To evaluate the impact of these SNPs on AS disease phenotype, including subclinical intestinal inflammation.

Main Methods:

  • Genotyping of three NLRP3 SNPs (rs35829419, rs4353135, rs10733113) and one CARD8 SNP (rs2043211) in 492 AS patients and 793 controls from Southern Sweden.
  • Assessment of phenotypic characteristics and faecal calprotectin levels in a subgroup of patients to evaluate subclinical intestinal inflammation.

Main Results:

  • The minor allele (A) of CARD8-C10X (rs2043211) showed a significant association with decreased AS risk (OR 0.74, p=0.012).
  • No significant associations were found between the investigated NLRP3 SNPs and AS susceptibility.
  • None of the studied SNPs were associated with faecal calprotectin levels, iritis, anti-TNF therapy response, or peripheral joint involvement.

Conclusions:

  • The minor allele of CARD8-C10X is associated with reduced susceptibility to ankylosing spondylitis in the studied Swedish population.
  • The investigated CARD8 and NLRP3 SNPs do not appear to influence AS disease phenotype or subclinical intestinal inflammation.
Abstract

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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...
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...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...