Essential hypertension and beta(2)-adrenergic receptor gene linkage and association analysis

Tomaszewski, M, Brain, NJR, Charchar, FJ, Wang, WYS, Lacka, B, Padmanabahn, S, Clark, JS, Anderson, NH, Edwards, HV, Zukowska-Szczechowska, E, Grzeszczak, W and Dominiczak, AF (2002) Essential hypertension and beta(2)-adrenergic receptor gene linkage and association analysis. Hypertension, 40 3: 286-291. doi:10.1161/01.HYP.0000029105.21202.FE

Author Tomaszewski, M
Brain, NJR
Charchar, FJ
Wang, WYS
Lacka, B
Padmanabahn, S
Clark, JS
Anderson, NH
Edwards, HV
Zukowska-Szczechowska, E
Grzeszczak, W
Dominiczak, AF
Title Essential hypertension and beta(2)-adrenergic receptor gene linkage and association analysis
Journal name Hypertension   Check publisher's open access policy
ISSN 0194-911X
Publication date 2002-09-01
Year available 2002
Sub-type Article (original research)
DOI 10.1161/01.HYP.0000029105.21202.FE
Open Access Status Not yet assessed
Volume 40
Issue 3
Start page 286
End page 291
Total pages 6
Place of publication PHILADELPHIA
Language eng
Abstract 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 I I 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 approximate to7 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 beta(2)-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, Gln27GIu, and Thr164Ile-3 functional single nucleotide polymorphisms within the beta(2)-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 beta(2)-adrenergic receptor gene as a major causative gene for the detected linkage.
Keyword chromosomes
adrenergic receptors
blood pressure
Family-Based Tests
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
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