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Interaction between CTLA4 gene and IBD5 locus in Hungarian Crohn's disease patients
Veronika Csöngei1, Luca Járomi, Eniko Sáfrány
1Department of Medical Genetics, University of Pécs, Pécs, Szigeti út 12, H-7624, Hungary.
Insights
Specific combinations of IBD5 and CTLA4 gene variants increase Crohn's disease risk in Hungarian patients. The IGR2198a_1 and IGR2096a_1 variants, when combined with the CTLA4 +49 AA genotype, significantly elevate susceptibility.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- IBD5 gene region variants IGR2198a_1 and IGR2096a_1 are linked to Crohn's disease (CD) in Hungarians.
- The IGR2230a_1 variant shows no disease association.
- The cytotoxic T lymphocyte antigen-4 (CTLA4) +49 A/G substitution was previously found to be neutral in Hungarian CD patients.
Purpose of the Study:
- To investigate the statistical interaction between IBD5 polymorphisms (IGR2198a_1, IGR2096a_1, IGR2230a_1) and the CTLA4 +49 A/G substitution.
- To determine if specific genotype combinations influence Crohn's disease risk.
Main Methods:
- Genotyping of 305 unrelated Crohn's disease patients and 310 healthy controls.
- Utilized Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) for genotyping.
Main Results:
- The IGR2198a_1 C and IGR2096a_1 T variants conferred susceptibility to CD only in individuals with the CTLA4 +49 AA genotype (P = 0.008; OR = 1.86 and P = 0.016; OR = 1.74, respectively).
- No significant disease risk effect was demonstrated for the IGR2230a_1 variant, even in combination with CTLA4 genotypes.
Conclusions:
- Specific genotype combinations of IBD5 and CTLA4 variants are associated with Crohn's disease risk.
- The findings suggest a potential interaction between CTLA4 +49 A/G substitution and certain IBD5 variants in disease susceptibility.
Backgrounds And Aims:
The IGR2198a_1 and IGR2096a_1 variants of the IBD5 region were found to be associated with Crohn's disease (CD) in the Hungarian population, while IGR2230a_1 does not seem to confer risk for the disease. In the present study, our aim was to investigate the statistical interaction of these three IBD5 polymorphisms with the +49 A/G substitution within the cytotoxic T lymphocyte antigen-4 (CTLA4) gene, detected previously as neutral gene variant in Hungarian IBD patients.
Methods:
A total of 305 unrelated subjects with CD and 310 healthy controls were genotyped with PCR-RFLP methods.
Results:
In contrast with single gene effects, after genotype stratification, the IGR2198a_1 C and IGR2096a_1 T variants were found to confer susceptibility only in subjects with CTLA4 +49 AA genotype (P = 0.008; OR = 1.86 and P = 0.016; OR = 1.74, respectively), for IGR2230a_1 no such effect on disease risk could be demonstrated.
Conclusion:
Analysis of specific genotype combinations unfolded a possible association between the CTLA4 +49 A/G substitution and two of the observed IBD5 variants with respect to disease risk.
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