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Functional IL18 polymorphism and susceptibility to Chronic Chagas Disease
Luciana Gabriel Nogueira1, Amanda Farage Frade1, Barbara Maria Ianni2
1Laboratory of Immunology, Heart Institute (InCor), School of Medicine, University of São Paulo, São Paulo, Brazil; Division of Clinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, Brazil; Institute for Investigation in Immunology (iii), INCT, São Paulo, Brazil.
Insights
A specific gene variant (rs2043055) in Interleukin-18 (IL-18) may influence the severity of Chronic Chagas Disease cardiomyopathy. This finding could help predict disease progression in patients with Chagas disease.
Area of Science:
- Immunogenetics
- Cardiovascular Medicine
- Infectious Diseases
Background:
- Chronic Chagas Disease cardiomyopathy (CCC) is a severe inflammatory heart condition affecting 30% of Trypanosoma cruzi infected individuals.
- Myocarditis, driven by Th1 T cells, is central to CCC pathogenesis, with local Interleukin-18 (IL-18) expression potentially creating a positive feedback loop with IFN-γ.
- The role of IL-18 in CCC susceptibility requires further investigation.
Purpose of the Study:
- To investigate the association between a single nucleotide polymorphism (SNP) in the IL-18 gene and the risk of developing Chagas cardiomyopathy.
- To assess the contribution of IL-18 genetic variations to the susceptibility and outcome of Chronic Chagas Disease.
Main Methods:
- Genotyping analysis of the rs2043055 marker within the IL18 gene.
- Comparison of genotype frequencies between Chagas disease cardiomyopathy patients (n=849) and asymptomatic individuals (n=202).
Main Results:
- Significant differences in genotype frequencies were observed between moderate and severe CCC patients exhibiting ventricular dysfunction.
- The IL18 rs2043055 polymorphism was associated with variations in CCC severity.
Conclusions:
- The IL18 rs2043055 polymorphism, or a closely linked SNP, may play a role in modulating the clinical outcome of Chagas cardiomyopathy.
- This genetic marker could potentially serve as a predictor for CCC progression.
Background:
Chronic Chagas Disease cardiomyopathy (CCC), a life-threatening inflammatory dilated cardiomyopathy, affects 30% of the approximately 8 million patients infected by Trypanosoma cruzi, the rest of the infected subjects remaining asymptomatic (ASY). The Th1 T cell-rich myocarditis plays a pivotal role in CCC pathogenesis. Local expression of IL-18 in CCC myocardial tissue has recently been described. IL-18 could potentially amplify the process by inducing increased expression of IFN-γ which in turn can increase the production of IL-18, thereby creating a positive feedback mechanism. In order to assess the contribution of the IL-18 to susceptibility to Chronic Chagas Disease, we investigated the association between a single nucleotide polymorphism (SNP) located in the IL-18 gene with the risk of developing Chagas cardiomyopathy.
Methods And Results:
We analyzed the rs2043055 marker in the IL18 gene in a cohort of Chagas disease cardiomyopathy patients (n=849) and asymptomatic subjects (n=202). We found a significant difference in genotype frequencies among moderate and severe CCC patients with ventricular dysfunction.
Conclusions:
Our analysis suggests that the IL18 rs2043055 polymorphism- or a SNP in tight linkage disequilibrium with it- may contribute to modulating the Chagas cardiomyopathy outcome.
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