Copyright © 1994 by the European Society of Cardiology.
© 1994 The European Society of Cardiology
Genetic Polymorphisms of the Angiotensin II type 1 (AT1) Receptor Gene




* Working Group of Molecular Neurobiology, Institute of Neuropsychopharmacology, Free University of Berlin Berlin
Free University Berlin, Klinikum Rudolf Virchow and German Heart Institute, Internal Medicine, Deportment of Cardiology/Angiology Berlin
Correspondence: Arndt Rolfs, MD, Working Group of Molecular Neurobiology, Institute of Neuropsychopharmacology, Free University of Berlin, Ulmenallee 30, 14060 Berlin, Germany
Numerous essential, physiological effects on the cardiovascular system are attributable to angiotensin II (Ang II). Because of this we can assume that genetic changes in the specific receptor of Ang II (Ang II type I receptor gene, AT1) play a decisive role in the occurrence of cardiovascular disease associated with blood pressure regulation, vascular tone, cardiac and vascular growth process. To test this hypothesis, we examined the presence of polymorphisms within the coding region of the AT1 gene using polymerase chain reaction (PCR) and subsequent non-radioactive sequencing of samples from a control group with no previous history of cardiovascular complaint in individuals or immediate family. Using the Taq-sequencing procedure we found polymorphic sites, especially in the 5' region of the gene (base pair positions 9, 16, 87, 133, 186), two of which led to an exchange of the amino acid (amino acid 6: Ser
Pro, amino acid 45: Gly
Arg). Together with the silent polymorphism at base pair position 573, which our group established previously, an additional polymorphism in the 3' region of the gene was discovered. This, however, did not confer any changes in amino acid sequence. In a preliminary study we found no association between [he distribution of the C/T573, polymorphic site and cardiovascular disease, such as essential hypertension (n = 20), coronary artery disease (n = 16) hypertrophic cardiomyopathy (n = 12) or dilated cardiomyopathy (n = 21). Further studies will be needed to determine to what extent the polymorphism described are associated with cardiovascular disease.
Key Words: Angiotensin II type 1 receptor gene genetic polymorphism polymerase chain reaction DNA sequencing associations studies