Association of a polymorphism of the angiotensin I-converting enzyme gene with essential hypertension

• Published in: Biochemical and biophysical research communications Vol. 184; no. 1; pp. 9 - 15
• Main Authors: Zee, Robert Y.L., Lou, Yi-kun, Griffiths, Lyn R., Morris, Brian J.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.04.1992; Elsevier
• Subjects: Adult; Aged; Alleles; Arterial hypertension. Arterial hypotension; Base Sequence; Biological and medical sciences; Blood and lymphatic vessels; Blood Pressure; Cardiology. Vascular system; Chromosome Deletion; Clinical manifestations. Epidemiology. Investigative techniques. Etiology; deletion; dipeptidyl carboxypeptidase I; DNA - blood; DNA - genetics; DNA - isolation & purification; DNA Transposable Elements; genes; Genotype; Humans; hypertension; Hypertension - enzymology; Hypertension - genetics; insertion; Introns; Leukocytes - enzymology; man; Medical sciences; Molecular Sequence Data; Oligodeoxyribonucleotides; Oligonucleotides, Antisense; Peptidyl-Dipeptidase A - genetics; Polymerase Chain Reaction; polymorphism; Polymorphism, Genetic; Promoter Regions, Genetic; Reference Values; Vascular disease; Human; Hypertension; Enzyme; Angiotensin converting enzyme; Polymorphism
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1016/0006-291X(92)91150-O

Angiotensin I-converting enzyme (ACE) is responsible for production of angiotensin II and breakdown of kinins, leading to increased blood pressure (BP). Furthermore, ACE inhibitors are effective anti-hypertensive agents. A 287 bp insertion/deletion polymorphism in intron 16 of the ACE gene (ACE) was examined by PCR in a cross-sectional study of 80 hypertensive (HT) and 93 normotensive (NT) subjects whose parents had a similar BP status at age ≥50. The frequency of the insertion allele was 0.56 in HTs and 0.41 in NTs, and the difference between observed alleles in all subjects in each group was significant (χ2 = 7.6, P<0.01). The data thus provide evidence in favour of an association of HT with a polymorphism at the ACE locus (17q23), so implicating this locus, and possibly a genetic variant of ACE itself, in human essential hypertension.