Open AccessACE Genotype Distributions Differ between Sporadic and Familial Hypertrophic Cardiomyopathy
Author(s) -
Ara Kassarjian,
Eleanor Elstein
Publication year - 2020
Publication title -
mcgill journal of medicine
Language(s) - English
Resource type - Journals
eISSN - 1715-8125
pISSN - 1201-026X
DOI - 10.26443/mjm.v2i2.746
Subject(s) - genotype , hypertrophic cardiomyopathy , medicine , genotype frequency , population , cardiomyopathy , allele frequency , genetics , gene , biology , heart failure , environmental health
This study investigated the frequency of ACE genotypes in sporadic hypertrophic cardiomyopathy (HCM) and compared these frequencies to those found in the general population and in familial HCM. Delineation of the genotype of a 287 bp fragment in the ACE gene of 10 patients with confirmed sporadic HCM demonstrated that 2 (20%) were of the DD genotype, 5 (50%) of the ID genotype, and 3 (30%) of the II genotype. These genotype distributions did not differ significantly from controls (p < 0.57). Comparison of the present results with genotype frequencies in familial HCM reported in prior studies revealed a significant difference in genotype distribution between sporadic and familial HCM (p < 0.04). These findings indicate that the frequency of the ACE genotype does not appear to differ between patients with sporadic HCM and the general population. However, the results suggest that, with regard to the ACE polymorphism studied, genetic differences may exist between the sporadic and familial forms of HCM.