β1-Adrenoceptor gene variations: a role in idiopathic dilated cardiomyopathy?

@article{Podlowski20001AdrenoceptorGV,
  title={$\beta$1-Adrenoceptor gene variations: a role in idiopathic dilated cardiomyopathy?},
  author={Svenia Podlowski and Katrin Wenzel and Hans Peter Luther and Johannes M{\"u}ller and Peter Bramlage and Gert Baumann and Stephan B. Felix and Astrid Speer and Roland Hetzer and Karla K{\"o}pke and Margret R. Hoehe and Gerd Wallukat},
  journal={Journal of Molecular Medicine},
  year={2000},
  volume={78},
  pages={87-93}
}
Abstract.A substantial body of evidence suggests involvement of the human β1-adrenoceptor (β1-AR) gene in the pathophysiology of dilated cardiomyopathy (DCM), a severe heart disease of significant public health impact. β1-AR-mediated signal transduction is dramatically altered due to downregulation, resulting in an impairment of myocardial response. The important role of genetic factors in idiopathic dilated cardiomyopathy (IDCM) recently recognized, we analyzed this prime candidate gene for… 
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Beta-adrenoceptor polymorphisms: does altered in vitro function predict in vivo effects?
Suppressive effect of the Gly389 allele of the beta1-adrenergic receptor gene on the occurrence of ventricular tachycardia in dilated cardiomyopathy.
  • C. Iwai, H. Akita, M. Yokoyama
  • Biology, Medicine
    Circulation journal : official journal of the Japanese Circulation Society
  • 2002
TLDR
The Gly389 variant supressed the occurrence of VT in DCM, suggesting that this allele confers a decreased risk of sudden death.
The Emerging Pharmacogenomics of the β-Adrenergic Receptors
TLDR
The current state of knowledge and understanding of the genetic variation present in the three human β-adrenergic receptor genes is reviewed to provide a foundation for the development of novel pharmacologic approaches where selection of and dosing of cardiovascular therapy is tailored to individuals on the basis of each patient's specific genetic makeup.
Cardiomyopathies: from genetics to the prospect of treatment
β-1 and β-2 adrenoceptor polymorphisms : Functional importance, impact on cardiovascular diseases and drug responses
The functional significance of genetic variation within the beta-adrenoceptor.
TLDR
The data on the in vitro behaviour of these two receptor variants is reviewed here, along with the evidence that they may affect both the risk of cardiovascular disease and the therapeutic response to beta-1 adrenoceptor antagonists.
Pharmacogenetics of ò1-Adrenergic Receptor Blockers in Heart FailureTherapy: A Systematic Review
TLDR
The findings of the current study have shown that β1-AR polymorphisms have an effect on survival and improvement in left ventricular ejection fraction in HF patients who were Arg389 homozygotes carriers treated with metoprolol and bucindolol.
β-Adrenergic Receptor Polymorphisms: Cardiovascular Disease Associations and Pharmacogenetics
TLDR
In vitro functional studies suggest that these polymorphisms in both the β1AR and β2AR genes have functional significance and the relevance of single polymorphism vs. haplotype analysis is discussed.
Adrenergic receptor polymorphisms and cardiac function (and dysfunction): a failure to communicate?
TLDR
In patients with congestive heart failure, polymorphisms of both β1- and β2-adrenergic receptors have been linked with disease expression, and the importance of the current findings from Brodde and colleagues in this issue of Circulation is importance.
Mutations in the beta1 adrenergic receptor gene and massive obesity in Japanese.
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References

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TLDR
The genomic organization of β 1 -adrenoceptor is described here for the first time and a unique and frequent polymorphism is found in the coding sequence of the gene which predicts an Arg389Gly substitution.
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TLDR
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TLDR
The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4, which could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.
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TLDR
The data suggest that the Arg variant of the Arg-->Gly exchange is associated with parental hypertension and higher blood pressure values in this northern European population.
Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties.
We have recently delineated three naturally occurring polymorphisms of the human beta 2-adrenergic receptor caused by missense mutations encoding for amino acids 16 and 27 of the extracellular…
Association of a G994→T Missense Mutation in the Plasma Platelet-Activating Factor Acetylhydrolase Gene With Genetic Susceptibility to Nonfamilial Dilated Cardiomyopathy in Japanese
TLDR
The possible association of a G994 (M allele)→T (m allele) missense mutation in the plasma PAF acetylhydrolase gene with genetic susceptibility to nonfamilial DCM has been investigated in 122 Japanese individuals with this condition and 226 healthy control subjects.
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TLDR
Data indicate that potentially important differences exist in the regulatory behavior of components of the β-adrenergic receptor-G protein-adenylate cyclase complex in IDC versus ISCDC, differences that presumably relate to the distinct pathophysiologies of these two types of heart muscle disease.
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TLDR
The agonist-mediated in vivo vasodilation in normotensive Austrian Caucasians is investigated and the results provide additional evidence that the Gly16/Arg16 alleles of the beta-2 AR are intimately related to blood pressure regulation and deserve further studies in the pathogenesis of essential hypertension.
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TLDR
Support is reported for association of the prodownregulatory glycine 16 variant of the beta2-adrenoceptor gene with hypertension in African Caribbeans from St Vincent and the Grenadines, coupled with reports of attenuated vasodilator responses to beta-agonists among people of West African ancestry, to identify a candidate gene for hypertension in this ethnic group.
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TLDR
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