© 2006 European Society of Cardiology
Role of β1- and 
2c-adrenergic receptor polymorphisms and their combination in heart failure: A case-control study
a Institute of Cardiology, Department of Experimental and Applied Medicine, University of Brescia Brescia, Italy
b Institute of Hygiene, Department of Experimental and Applied Medicine, University of Brescia Brescia, Italy
* Corresponding author. Cattedra di Cardiologia, Università di Brescia c/o Spedali Civili P.zza Spedali Civili 1 25123 Brescia, Italy. Tel.: +39 30 3995572; fax: +39 30 3700359. E-mail address: metramarco{at}libero.it
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Abstract |
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Background: Adrenergic activation has a central role in the development of HF. The function of the β1- and the 
2C-adrenergic receptors is influenced by gene polymorphisms: the β1Arg389 variant is associated with increased β1-receptor sensitivity and the 2C-receptor Del322-325 variant is associated with decreased 2C receptor function and increased norepinephrine release. We hypothesised that these polymorphisms could influence the prevalence of heart failure.
Methods: The role of the β1- and 2C-adrenergic receptor gene polymorphisms as risk factors for heart failure (HF) was assessed in an Italian white Caucasian population using a case-control study design. Genomic DNA was analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP).
Results: We compared 260 Caucasian patients with HF and 230 normal subjects. The β1Arg389 allele was frequent both in the patients with HF (69%) and in the normal subjects (73%). The 2CDel322-325 variant was rare in both groups (9% and 8%, respectively). Patients homozygotes for either the β1Arg389 or the 2CDel322-325 alleles had no increased risk of HF (odds ratio [OR], 0.8; 95%CI: 0.5—1.2 and OR, 0.8; 95% CI: 0.4—1.8, respectively). Patients homozygotes for both the β1Arg389 and the 2CDel322-325 alleles had no increased risk of HF as well (OR: 0.6; 95% CI: 0.2—2.1).
Conclusions: β1-ARs and 2C-ARs polymorphisms are not associated with an increased risk of HF in an Italian white Caucasian population.
Key Words: β-Adrenergic receptors • -Adrenergic receptors • Gene polymorphisms
Received February 20, 2005; Revised May 16, 2005; Accepted July 20, 2005
This paper was supported by CARIPLO funds from "Centro per lo studio del trattamento dello scompenso cardiaco" of the University of Brescia.
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