This Article Full Text Full Text (PDF) All Versions of this Article: 40/3/286    most recent 01.HYP.0000029105.21202.FEv1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Tomaszewski, M. Articles by Dominiczak, A. F. Search for Related Content PubMed PubMed Citation Articles by Tomaszewski, M. Articles by Dominiczak, A. F. Related Collections Clinical genetics Hypertension - basic studies Clinical Studies Genetics of cardiovascular disease

(Hypertension. 2002;40:286.)
© 2002 American Heart Association, Inc.

Scientific Contributions

Essential Hypertension and ß₂-Adrenergic Receptor Gene

Linkage and Association Analysis

Maciej Tomaszewski; Nick J.R. Brain; Fadi J. Charchar; William Y.S. Wang; Beata Lacka; Sandosh Padmanabahn; James S. Clark; Niall H. Anderson; Helen V. Edwards; Ewa Zukowska-Szczechowska; Wladyslaw Grzeszczak; Anna F. Dominiczak

From the British Heart Foundation Blood Pressure Group, Department of Medicine and Therapeutics, University of Glasgow (M.T., N.J.R.B., F.J.C., S.P., J.S.C., N.H.A., H.V.E., A.F.D.), Glasgow, United Kingdom; Department of Internal Medicine, Diabetology and Nephrology, Silesian School of Medicine (M.T., E.Z-S., B.L., W.G.), Zabrze, Poland; and Department of Medical Genetics, University of Cambridge (W.Y.S.W.), Cambridge, United Kingdom.

Correspondence to Prof Anna F. Dominiczak, British Heart Foundation Blood Pressure Group, Department of Medicine and Therapeutics, University of Glasgow, Western Infirmary, Glasgow G11 6NT, United Kingdom. E-mail ad7e{at}clinmed.gla.ac.uk

A region on human chromosome 5 (5q31.1-qter) contains several genes that encode important blood pressure regulators and thus is a good candidate for analysis of linkage and association with hypertension. We recruited 638 individuals from 212 Polish pedigrees with clustering of essential hypertension. These subjects were genotyped for 11 microsatellite markers that span this region to test for linkage to essential hypertension and systolic and diastolic blood pressures. The segment of this region of 7 cM delineated by D5S1480 and D5S500 markers was linked to blood pressures in multipoint analysis. In 2-point analysis, D5S1480—the marker in close proximity to ß₂-adrenergic receptor gene—reached the maximal linkage to essential hypertension and adjusted systolic and diastolic blood pressures, implicating this gene as a positional candidate for further association studies. Arg16Gly, Gln27Glu, and Thr164Ile—3 functional single nucleotide polymorphisms within the ß₂-adrenergic receptor gene—were tested for association with essential hypertension. None of these polymorphisms showed a significant association with essential hypertension, separately or in the haplotype analysis. This study provided evidence of linkage of 5q31.1-5qter region to essential hypertension in the European population. Moreover, it implicated the chromosomal segment in close proximity to D5S1480 and D5S500. The detailed analysis of 3 single nucleotide polymorphisms does not support the role of the ß₂-adrenergic receptor gene as a major causative gene for the detected linkage.

Key Words: chromosomes • adrenergic receptors • genes • linkage • blood pressure

This article has been cited by other articles:

				M. Tomaszewski, F. J. Charchar, T. Barnes, M. Gawron-Kiszka, A. Sedkowska, E. Podolecka, J. Kowalczyk, W. Rathbone, Z. Kalarus, W. Grzeszczak, et al. A Common Variant in Low-Density Lipoprotein Receptor-Related Protein 6 Gene (LRP6) Is Associated With LDL-Cholesterol Arterioscler Thromb Vasc Biol, September 1, 2009; 29(9): 1316 - 1321. [Abstract] [Full Text] [PDF]

				M. Tomaszewski, F. J. Charchar, M. D. Lynch, S. Padmanabhan, W. Y.S. Wang, W. H. Miller, W. Grzeszczak, C. Maric, E. Zukowska-Szczechowska, and A. F. Dominiczak Fibroblast Growth Factor 1 Gene and Hypertension: From the Quantitative Trait Locus to Positional Analysis Circulation, October 23, 2007; 116(17): 1915 - 1924. [Abstract] [Full Text] [PDF]

				L. Pojoga, N. S. Kolatkar, J. S. Williams, T. S. Perlstein, X. Jeunemaitre, N. J. Brown, P. N. Hopkins, B. A. Raby, and G. H. Williams {beta}-2 Adrenergic Receptor Diplotype Defines a Subset of Salt-Sensitive Hypertension Hypertension, November 1, 2006; 48(5): 892 - 900. [Abstract] [Full Text] [PDF]

				J. C. Poole, H. Snieder, H. C. Davis, and F. A. Treiber Anger suppression and adiposity modulate association between ADRB2 haplotype and cardiovascular stress reactivity. Psychosom Med, March 1, 2006; 68(2): 207 - 212. [Abstract] [Full Text] [PDF]

				M. Tomaszewski, F. J. Charchar, B. Lacka, U. Pesonen, W. Y.S. Wang, E. Zukowska-Szczechowska, W. Grzeszczak, and A. F. Dominiczak Epistatic Interaction Between {beta}2-Adrenergic Receptor and Neuropeptide Y Genes Influences LDL-Cholesterol in Hypertension Hypertension, November 1, 2004; 44(5): 689 - 694. [Abstract] [Full Text] [PDF]

				S. L. Kirstein and P. A. Insel Autonomic Nervous System Pharmacogenomics: A Progress Report Pharmacol. Rev., March 1, 2004; 56(1): 31 - 52. [Abstract] [Full Text] [PDF]

				F. J. Charchar, M. Tomaszewski, B. Lacka, J. Zakrzewski, E. Zukowska-Szczechowska, W. Grzeszczak, and A. F. Dominiczak Association of the Human Y Chromosome with Cholesterol Levels in the General Population Arterioscler Thromb Vasc Biol, February 1, 2004; 24(2): 308 - 312. [Abstract] [Full Text]

				A. C. Pereira, M. S. Floriano, G. F.A. Mota, R. S. Cunha, F. L. Herkenhoff, J. G. Mill, and J. E. Krieger {beta}2 Adrenoceptor Functional Gene Variants, Obesity, and Blood Pressure Level Interactions in the General Population Hypertension, October 1, 2003; 42(4): 685 - 692. [Abstract] [Full Text] [PDF]

				M. Castellano, F. Rossi, M. Giacche, C. Perani, F. Rivadossi, M. L. Muiesan, M. Salvetti, M. Beschi, D. Rizzoni, and E. Agabiti-Rosei {beta}2-Adrenergic Receptor Gene Polymorphism, Age, and Cardiovascular Phenotypes Hypertension, February 1, 2003; 41(2): 361 - 367. [Abstract] [Full Text] [PDF]