open access

Vol 67, No 3 (2009)
Other
Published online: 2009-03-24
Submitted: 2012-12-28
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Original articles
Polymorphisms of the beta-1 and beta-2 adrenergic receptors in Polish patients with idiopathic dilated cardiomyopathy

Aleksandra Pączkowska, Małgorzata Szperl, Łukasz A. Małek, Łukasz Mazurkiewicz, Ewa Skóra, Jacek Grzybowski, Marta Roszczynko, Zofia Bilińska, Frédérique Tesson, Witold Rużyłło
Kardiol Pol 2009;67(3):235-241.

open access

Vol 67, No 3 (2009)
Other
Published online: 2009-03-24
Submitted: 2012-12-28

Abstract


Background: Dilated cardiomyopathy (DCM) is a disorder characterised by dilation and impaired contractility of the left or both ventricles. This multifactorial disease has a strong genetic component with familial occurrence. A number of genes have been associated with idiopathic DCM (IDCM) including beta-1 (b1-AR) and beta-2 (b2-AR) adrenergic receptors. b1-AR and b2-AR are G-coupled proteins which play an important role in the regulation of heart rate and cardiac contractility. The beta-adrenergic receptor pathway is altered in heart failure. Recent studies have discovered functionally relevant and common polymorphisms in both b1-AR and b2-AR.
Aim: We investigated the frequency of the b1-AR (Ser49Gly, Arg389Gly) and b2-AR (Arg16Gly, Gln27Glu, Thr164Ile) polymorphisms in patients with IDCM in comparison to controls in the Polish population.
Methods: We used a case-control study design comparing a series of consecutive, unrelated 97 IDCM patients with 105 healthy blood donors. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP).
Results: There was no significant difference in relation to genotype distribution and allele frequencies of any analysed b1-AR and b2-AR polymorphisms between IDCM patients and controls. The analysis of polymorphism associations did not reveal a higher frequency of coexisting b2-AR Gly16Gln27, Gly16Glu27 and Arg16Gln27 genotypes alone or in combination with the b1-AR Arg389 allele in IDCM.
Conclusion: Our data showed that the studied beta-adrenergic receptor polymorphisms did not seem to play a significant role in IDCM in the Polish population.

Abstract


Background: Dilated cardiomyopathy (DCM) is a disorder characterised by dilation and impaired contractility of the left or both ventricles. This multifactorial disease has a strong genetic component with familial occurrence. A number of genes have been associated with idiopathic DCM (IDCM) including beta-1 (b1-AR) and beta-2 (b2-AR) adrenergic receptors. b1-AR and b2-AR are G-coupled proteins which play an important role in the regulation of heart rate and cardiac contractility. The beta-adrenergic receptor pathway is altered in heart failure. Recent studies have discovered functionally relevant and common polymorphisms in both b1-AR and b2-AR.
Aim: We investigated the frequency of the b1-AR (Ser49Gly, Arg389Gly) and b2-AR (Arg16Gly, Gln27Glu, Thr164Ile) polymorphisms in patients with IDCM in comparison to controls in the Polish population.
Methods: We used a case-control study design comparing a series of consecutive, unrelated 97 IDCM patients with 105 healthy blood donors. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP).
Results: There was no significant difference in relation to genotype distribution and allele frequencies of any analysed b1-AR and b2-AR polymorphisms between IDCM patients and controls. The analysis of polymorphism associations did not reveal a higher frequency of coexisting b2-AR Gly16Gln27, Gly16Glu27 and Arg16Gln27 genotypes alone or in combination with the b1-AR Arg389 allele in IDCM.
Conclusion: Our data showed that the studied beta-adrenergic receptor polymorphisms did not seem to play a significant role in IDCM in the Polish population.
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Keywords

heart failure; idiopathic dilated cardiomyopathy; b1-AR and b2-AR polymorphism

About this article
Title

Original articles
Polymorphisms of the beta-1 and beta-2 adrenergic receptors in Polish patients with idiopathic dilated cardiomyopathy

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 67, No 3 (2009)

Pages

235-241

Published online

2009-03-24

Bibliographic record

Kardiol Pol 2009;67(3):235-241.

Keywords

heart failure
idiopathic dilated cardiomyopathy
b1-AR and b2-AR polymorphism

Authors

Aleksandra Pączkowska
Małgorzata Szperl
Łukasz A. Małek
Łukasz Mazurkiewicz
Ewa Skóra
Jacek Grzybowski
Marta Roszczynko
Zofia Bilińska
Frédérique Tesson
Witold Rużyłło

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