Evidence that polymorphism of the angiotensin I converting enzyme gene may be related to idiopathic dilated cardiomyopathy in the Chinese population.
Angiotensin I-converting enzyme (ACE) is responsible for the production of angiotension II and the breakdown of kinins, leading to increased blood pressure (BP), induction of vascular smooth muscle cell proliferation, and the stimulation of myocardial-cell hypertrophy. A 287 bp insertion/deletion polymorphism in intron 16 of the ACE gene was examined by polymerase chain reaction in a cross-sectional study of 35 patients with idiopathic dilated cardiomyopathy (IDC) and 35 patients with normally functioning hearts (NT). Compared with the deletion/deletion (D/D) frequency in the control population, the frequency of the deletion allele was 0.757 in IDC patients and 0.600 in NTs; the difference between observed alleles in all subjects in each group was significant (x2 = 3.96; P < 0.05). The data thus provide evidence in favor of an association between idiopathic dilated cardiomyopathy and a polymorphism at the ACE locus (17q23), thus implicating this locus, and possibly a genetic variant of ACE, itself, in human idiopathic dilated cardiomyopathy.
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000209:etiology / Q000235:genetics*; D002681:China; D004251:DNA Transposable Elements; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic
D004251:DNA Transposable Elements; D007703:Peptidyl-Dipeptidase A