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Published on: August 17, 2022
HLA-DQB1* polymorphism and associations with dilated cardiomyopathy, inflammatory dilated cardiomyopathy and
Irene Portig1, Andrea Sandmoeller, Sabine Kreilinger
1Department of Internal Medicine-Cardiology, Philipps University Marburg, Marburg, Germany. portig@med.uni-marburg.de
Insights
This study links specific HLA DQB1* alleles to myocarditis, a heart inflammation. Certain alleles are associated with myocarditis, distinguishing it from idiopathic dilated cardiomyopathy (DCM).
Area of Science:
- Immunogenetics
- Cardiology
- Molecular Biology
Background:
- Idiopathic dilated cardiomyopathy (DCM) has weak links to HLA class II alleles.
- Systematic investigation of HLA class II alleles in DCM causes, particularly myocarditis, is lacking.
Purpose of the Study:
- To investigate associations between HLA DQB1* alleles and different forms of DCM, including myocarditis.
- To explore if HLA DQB1* alleles can differentiate between idiopathic and inflammatory DCM.
Main Methods:
- HLA DQB1* allele typing using sequence-specific primer-polymerase chain reaction.
- Analysis of patients with idiopathic DCM, myocarditis with normal function, and inflammatory DCM.
- Comparison with cardiac disease-free controls and population controls.
Main Results:
- Significant association of HLA DQB1*0303 with myocarditis without cardiac dysfunction.
- Weaker associations found for HLA DQB1*0301 presence and HLA DQB1*06 absence in inflammatory DCM.
- Potential of DQB1*02-DQB1*03 allelic combination to distinguish idiopathic from inflammatory DCM.
Conclusions:
- Specific HLA DQB1* alleles are associated with myocarditis and inflammatory DCM.
- HLA DQB1* alleles may serve as biomarkers to differentiate DCM subtypes.
- Further prospective studies are needed to confirm these findings.
Abstract:
To date, only weak associations have been reported between idiopathic dilated cardiomyopathy (DCM) and certain HLA class II alleles. Associations between HLA class II alleles and specific causes of DCM, especially myocarditis, have as yet not been systematically investigated. Typing of HLA DQB1* allele was performed using a sequence-specific primer-polymerase chain reaction technique in 22 unrelated patients with idiopathic DCM, 19 patients with myocarditis and normal left ventricular function, and 16 patients with myocarditis and impaired left ventricular function (i.e. inflammatory DCM). Controls comprised 44 patients without (inflammatory) cardiac disease and a population control. A significant association was found for presence of HLA DQB1*0303 with myocarditis without cardiac dysfunction. Weaker associations were seen for presence of HLA DQB1*0301 and absence of HLA DQB1*06 with inflammatory DCM. Additionally, allelic combination DQB1*02-DQB1*03 may be able to distinguish idiopathic from inflammatory DCM, and HLA DQB1*02 myocarditis with cardiac dysfunction from myocarditis without, if results are confirmed by larger prospective studies.
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Myocarditis I: Introduction
