Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.
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.
van der Merwe
Lize
L
Biostatistics Unit, Medical Research Council of South Africa, Tygerberg, South Africa.
Cloete
Ruben
R
Revera
Miriam
M
Heradien
Marshall
M
Goosen
Althea
A
Corfield
Valerie A
VA
Brink
Paul A
PA
Moolman-Smook
Johanna C
JC
D000328:Adult; D000085962:Angiotensin-Converting Enzyme 2; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D015331:Cohort Studies; D005190:Family; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000473:pathology*; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009929:Organ Size / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012727:Sex Characteristics
D007703:Peptidyl-Dipeptidase A; C000705307:ACE2 protein, human; D000085962:Angiotensin-Converting Enzyme 2