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CARD15 polymorphisms in Behçet's disease
1Gastroenterology Unit, University of Oxford, Gibson Laboratories, Radcliffe Infirmary, Oxford, United Kingdom. tariqahmad@doctors.org.uk
Insights
Genetic analysis revealed CARD15 gene variants are not associated with Behçet's disease (BD) susceptibility. Further research is needed to identify shared genetic factors for BD and Crohn's disease (CD).
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Behçet's disease (BD) is a chronic, multi-system inflammatory disorder with similarities to inflammatory bowel diseases (IBDs).
- CARD15 is a known susceptibility gene for Crohn's disease (CD).
- Previous linkage studies suggested a potential role for CARD15 in BD.
Purpose of the Study:
- To investigate the association between CARD15 gene variants and susceptibility to Behçet's disease.
- To explore the role of CARD15 in BD pathogenesis, considering its established role in CD.
Main Methods:
- Studied 374 BD patients from ethnically homogeneous cohorts (English, Turkish, Arab).
- Performed CARD15 mutation detection via direct sequencing and genotyped identified variants.
- Conducted case-control analyses, stratified by HLA-B*51 status.
Main Results:
- Identified six known CARD15 polymorphisms and two CD-associated polymorphisms at low frequencies.
- Observed significant ethnic variation in CARD15 haplotype frequencies.
- Found no association between CARD15 polymorphisms and BD susceptibility, regardless of HLA-B*51 status.
Conclusions:
- CARD15 variant alleles do not contribute to Behçet's disease susceptibility.
- The genetic basis for shared susceptibility loci between BD and CD remains to be identified.
- Further investigation into other genetic factors is warranted.
Background:
Behçet's disease (BD) is a chronic multi-system inflammatory disorder of unknown aetiology, which shares many features of the inflammatory bowel diseases (IBDs). CARD15 has recently been identified as the first susceptibility gene in Crohn's disease (CD).
Objective:
Given certain clinical and pathological similarities between CD and BD, and recent evidence of linkage of BD to the CARD15 genomic region, the aim of this study was to investigate the role of CARD15 variants in determining susceptibility to BD.
Methods:
We studied 374 BD patients from three ethnically homogeneous cohorts (white English, Turkish, and Middle Eastern Arabs of Palestinian and Jordanian descent). Mutation detection of CARD15 was performed by direct sequencing in a subset of patients from each group and the identified variants were genotyped in the complete cohorts. Case-control analyses were carried out with additional stratification by the BD-associated allele, HLA-B*51.
Results:
Mutation detection identified six previously described CARD15 polymorphisms at a frequency of > 3%. Additionally, two of the three CD-associated polymorphisms were present, but at low frequency. The frequency of haplotypes, constructed from nine genotyped polymorphisms, demonstrated significant variation between different ethnic groups. However, case-control analyses demonstrated no association between the CARD15 polymorphisms and susceptibility to BD, irrespective of HLA-B*51 status.
Conclusion:
CARD15 variant alleles are not associated with susceptibility to BD. Other shared loci, currently under investigation, may determine susceptibility to both CD and BD.
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