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European Heart Journal 2000 21(8):633-638; doi:10.1053/euhj.1999.1738
Copyright © 2000 by the European Society of Cardiology.
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Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms

C Fatinia, R Abbateb,f1, G Pepec, B Battaglinia, F Gensinia, RuggianoG b, G.F Gensinib and R Guazzellia

a Dipartimento di Fisiopatologia Clinica, Unità di Genetica Medica, Florence
b Istituto di Clinica Medica Generale e Cardiologia, AO Careggi, University of Florence, Florence
c Dipartimento di Medicina Interna, University of ‘Tor Vergata’ Rome, Italy

revised May 18, 1999; accepted May 19, 1999

Abstract

Background Polymorphisms within renin angiotensin system genes have been investigated as risk factors for coronary artery disease in different populations with contradicting results. The aim of this study was to investigate the genotype distribution and the allele frequencies of ACE, AT1R and AGT gene polymorphisms as coronary artery disease factors and their synergistic effects on coronary risk in an Italian population.

Methods and Results In this study ACE, AT1R and AGT gene polymorphisms were investigated in 205 consecutive coronary artery disease patients and in 209 controls. These polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The ACE D and AGT 235T allele, but not AT1R C allele, frequency was statistically significant in patients. An association between coronary artery disease and ACE DD, AT1R CC and AGT TT genotype, was found by univariate analysis (OR 2·06 P=0·0007, OR 2·49 P=0·009, OR 1·87P =0·019, respectively). At multivariate analysis ACE DD and AT1R CC genotype (OR 1·81P =0·011, OR 2·61 P=0·011, respectively) remained associated with coronary heart disease. Subjects carrying the ACE DD genotype and AT1R C allele showed a stronger association with myocardial infarction (OR=4·02, P<0·0001).

Conclusion Our report indicates the increased risk of coronary artery disease in the presence of ACE DD and AT1R CC genotypes independent of other risk factors, in Italian patients. The present study stresses the relevance of screening for genetic risk factors.

Key Words: Coronary artery disease, ACE-AGT-AT1R polymorphisms, coronary risk profile

f1 Correspondence: Professor Rosanna Abbate, Istituto di Clinica Medica Generale e Cardiologia, University of Florence, V.le Morgagni, 85, 50134 Florence, Italy.

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