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Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring

Iacoviello, Massimo; Forleo, Cinzia; Sorrentino, Sandro; Romito, Roberta; De Tommasi, Elisabetta; Lucarelli, Katya; Guida, Pietro; Pitzalis, Maria Vittoria

Journal of Cardiovascular Medicine: May 2006 - Volume 7 - Issue 5 - p 316–321
doi: 10.2459/01.JCM.0000223252.34611.87
Original articles

Background The offspring of hypertensive families are characterized by higher arterial blood pressure values and a depressed autonomic control of heart rate. The present study aimed to verify whether these differences are associated with a different genotype distribution of functionally relevant polymorphisms of the alpha- and beta-adrenergic receptor (AR) genes.

Methods We selected 109 age- and sex-matched young normotensive subjects with (FH+, n = 56) and without (FH−, n = 53) a family history of hypertension who underwent evaluation of arterial pressure; 24-h electrocardiogram monitoring to assess time-domain parameters of autonomic heart rate control [i.e. mean RR interval (NN), SD of RR intervals (SDNN) and mean square root of the differences of consecutive RR intervals (rMSSD)]; spectral baroreflex sensitivity measurement; and echo-Doppler to assess diastolic function and left ventricular mass. They were also characterized for the following polymorphisms by means of polymerase chain reaction-restriction fragment polymorphism analysis: Arg492Cys in the α1a-AR; Del301-303 in the α2b-AR; Ser49Gly and Arg389Gly in the β1-AR; and the 5′ leader cistron Arg19Cys, Arg16Gly and Gln27Glu in the β2-AR.

Results FH+ individuals showed a higher systolic pressure, a lower SDNN and a greater isovolumic relaxation time compared to normotensive offspring. No differences were found between the two groups when genotype distribution of the studied polymorphisms was considered. Subjects carrying α1a-AR Cys492 allelic variant showed lower values of NN, SDNN and rMSSD, independent of age, gender and body mass index.

Conclusions The functionally relevant polymorphisms of α2b-, β1- and β2-AR genes are not associated with a family history of essential hypertension. The Arg492Cys polymorphism of the α1a-AR gene, although not associated with a family history of hypertension, was strongly related to autonomic control of heart rate.

aInstitute of Cardiology, University of Bari, Bari

bEmergency Cardiology Department, University-Hospital of Bari, Bari

cInternal Medicine, Cardiology, The Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA

Received 9 May, 2005

Revised 11 July, 2005

Accepted 14 July, 2005

Correspondence and requests for reprints to Massimo Iacoviello, Institute of Cardiology – University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy Tel: +39 80 5478631; fax: +39 80 5478796; e-mail:

Sponsorship: This study was partially funded by a grant from the Italian Society of Cardiology.

© 2006 Italian Federation of Cardiology. All rights reserved.