Why the study?
Does genetic variation in the ACE2 gene modulate the extent of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy?
Observational (n=227)
Blinded observers
Does genetic variation in the ACE2 gene modulate the extent of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy?
Answers are grounded in this paper and cite their sources.
Genetic variation in the ACE2 gene (specifically the rs879922 G-allele) modifies the extent of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy, independent of the primary disease-causing mutation and blood pressure.
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.
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Merwe et al. (2008) conducted an observational in Hypertrophic cardiomyopathy (n=227). G-allele of rs879922 in the ACE2 gene vs. Non-carriers of the G-allele was evaluated on Left ventricular mass (LVM) (Beta 18.7 g, p=0.0205).
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