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Lack of genetic susceptibility in takotsubo cardiomyopathy: a case-control study
- Source :
- BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018), BMC Medical Genetics
- Publication Year :
- 2018
- Publisher :
- BMC, 2018.
-
Abstract
- Background Takotsubo cardiomyopathy (TCM), also known as “broken heart syndrome”, is a type of heart failure characterized by transient ventricular dysfunction in the absence of obstructive coronary lesions. Although associated with increased levels of catecholamines, pathophysiological mechanisms are unknown. Relapses and family heritability indicate a genetic predisposition. Several small studies have investigated associations between three different loci; the β1-adrenic receptor (ADRB1), G-protein-coupled receptor kinase 5 (GRK5), Bcl-associated athanogene 3 (BAG3) and TCM but no consensus has been reached. Methods Participants were recruited using the Swedish Coronary Angiography and Angioplasty Register (SCAAR). TCM patients without coronary artery disease (CAD)(n = 258) were identified and age- and sex-matched subjects with (n = 164) and without (n = 243) CAD were selected as controls. DNA was isolated from saliva and genotyped for candidate single nucleotide polymorphisms in the ADRB1, GRK5 and BAG3 genes. Allele frequencies and Odds Ratios (OR) with 95% Confidence Intervals (CI) for the investigated polymorphisms were compared, respectively calculated for TCM patients and controls. Results There were no differences in allele frequencies between TCM patients and controls. OR (CI) for TCM patients having at least one minor allele using controls as reference were 1.07 (0.75–1.55) for ADRB1, 0.45 (0.11–1.85) for GRK5 and 1.27 (0.74–2.19) for BAG3. Conclusion By genotyping a large takotsubo cohort, we demonstrate a lack of association between candidate SNPs in the ADRB1, GRK5 and BAG3 genes, earlier suggested to contribute to TCM. Our result indicates a need to expand the search for new genetic candidates contributing to TCM. Electronic supplementary material The online version of this article (10.1186/s12881-018-0544-6) contains supplementary material, which is available to authorized users.
- Subjects :
- G-Protein-Coupled Receptor Kinase 5
Male
medicine.medical_specialty
lcsh:Internal medicine
Genotyping Techniques
lcsh:QH426-470
Cardiomyopathy
Single-nucleotide polymorphism
Coronary Artery Disease
030204 cardiovascular system & hematology
Polymorphism, Single Nucleotide
Broken heart syndrome
Coronary artery disease
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Gene Frequency
Internal medicine
Surveys and Questionnaires
Receptors
Genetics
medicine
Genetic predisposition
Humans
Genetic Predisposition to Disease
030212 general & internal medicine
Single nucleotide
lcsh:RC31-1245
Allele frequency
Genetics (clinical)
Adaptor Proteins, Signal Transducing
Aged
Sweden
business.industry
Case-control study
Middle Aged
medicine.disease
Bcl-associated athanogene 3
Minor allele frequency
lcsh:Genetics
Adrenergic
Case-Control Studies
Female
Takotsubo cardiomyopathy
Receptors, Adrenergic, beta-1
business
Apoptosis Regulatory Proteins
Polymorphisms
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 14712350
- Volume :
- 19
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- BMC Medical Genetics
- Accession number :
- edsair.doi.dedup.....41feb65733dda8b47a5754b549e30346