Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy
Date
2008
Authors
van der Merwe L.
Cloete R.
Revera M.
Heradien M.
Goosen A.
Corfield V.A.
Brink P.A.
Moolman-Smook J.C.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Hypertrophic cardiomyopathy, a common, inherited cardiac muscle disease, is primarily caused by mutations in sarcomeric protein-encoding genes and is characterized by overgrowth of ventricular muscle that is highly variable in extent and location. This variability has been partially attributed to locus and allelic heterogeneity of the disease-causing gene, but other factors, including unknown genetic factors, also modulate the extent of hypertrophy that develops in response to the defective sarcomeric functioning. Components of the renin-angiotensin-aldosterone system are plausible candidate hypertrophy modifiers because of their role in controlling blood pressure and biological effects on cardiomyocyte hypertrophy. © The Author(s) 2008.
Description
Keywords
angiotensin converting enzyme 2, adult, article, female, gene linkage disequilibrium, gene mutation, genetic variability, genotype, heart left ventricle hypertrophy, heart left ventricle mass, heart ventricle wall, human, hypertrophic cardiomyopathy, major clinical study, male, priority journal, renin angiotensin aldosterone system, single nucleotide polymorphism, Adult, Cardiomyopathy, Hypertrophic, Cohort Studies, Family, Female, Gene Frequency, Genotype, Humans, Hypertrophy, Left Ventricular, Lod Score, Male, Middle Aged, Organ Size, Peptidyl-Dipeptidase A, Polymorphism, Single Nucleotide, Sex Characteristics, Variation (Genetics)
Citation
Human Genetics
124
1
124
1