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Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene

Published online by Cambridge University Press:  01 July 1999

J. ERDMANN ,
K. RIEDEL ,
K. ROHDE ,
I. FOLGMANN ,
T. WIENKER ,
E. FLECK  and
V. REGITZ-ZAGROSEK
J. ERDMANN
Affiliation:
Department of Internal Medicine and Cardiology, Charité, Humboldt University and Deutsches Herzzentrum Berlin, Germany
K. RIEDEL
Affiliation:
Department of Internal Medicine and Cardiology, Charité, Humboldt University and Deutsches Herzzentrum Berlin, Germany
K. ROHDE
Affiliation:
Max-Delbrück-Centrum for Molecular Medicine, Department of Bioinformatics, Berlin-Buch, Germany
I. FOLGMANN
Affiliation:
Department of Internal Medicine and Cardiology, Charité, Humboldt University and Deutsches Herzzentrum Berlin, Germany
T. WIENKER
Affiliation:
Institute of Medical Statistics, University of Bonn, Germany
E. FLECK
Affiliation:
Department of Internal Medicine and Cardiology, Charité, Humboldt University and Deutsches Herzzentrum Berlin, Germany
V. REGITZ-ZAGROSEK
Affiliation:
Department of Internal Medicine and Cardiology, Charité, Humboldt University and Deutsches Herzzentrum Berlin, Germany
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Abstract

In this study eight sequence variants in the functional promoter of the human angiotensin II subtype 1 (AT1 or AGTR1) receptor gene are reported. Six of these variants are in nearly total linkage disequilibrium with each other and occur with a frequency of 15.7%. By haplotype estimation this group of eight sequence variants is characterized by only five haplotypes. There is no linkage disequilibrium between one of these haplotypes and the AT1+1166A/C variant. The finding of polymorphic sites in the functional promoter of the human AT1 locus will be beneficial to the study of the role of the AT1 receptor gene in hypertension and other cardiovascular diseases.

Type
SHORT COMMUNICATION
Information
Annals of Human Genetics , Volume 63 , Issue 4 , July 1999 , pp. 369 - 374
Copyright
© University College London 1999

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