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(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

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