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


OBJECTIVE
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.


CONCLUSIONS
Our data showed that the studied beta-adrenergic receptor polymorphisms did not seem to play a significant role in IDCM in the Polish population.
Paczkowska
Aleksandra
A
Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
Szperl
Małgorzata
M
Małek
Łukasz
Ł
Mazurkiewicz
Łukasz
Ł
Skóra
Ewa
E
Grzybowski
Jacek
J
Roszczynko
Marta
M
Bilińska
Zofia
Z
Tesson
Frederique
F
Ruzyłło
Witold
W
D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length; D018342:Receptors, Adrenergic, beta-1 / Q000235:genetics*; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics*; D018570:Risk Assessment; D016277:Ventricular Function, Left / Q000235:genetics*
D018342:Receptors, Adrenergic, beta-1; D018343:Receptors, Adrenergic, beta-2