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The ACE2 gene: its potential as a functional candidate for cardiovascular disease
Louise M Burrell1, Stephen B Harrap, Elena Velkoska
1Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. l.burrell@unimelb.edu.au
Clinical Science (London, England : 1979)
|September 28, 2012
Summary
Genetic variations in the ACE2 gene may influence cardiovascular disease (CVD) risk. Research is ongoing to understand ACE2
Area of Science:
- Cardiovascular Science
- Genetics
- Molecular Biology
Background:
- The renin-angiotensin system (RAS) is crucial in cardiovascular disease (CVD) pathophysiology.
- ACE2 (angiotensin-converting enzyme 2) counterbalances the classic RAS by degrading Angiotensin II.
- Altered ACE2 expression and activity are linked to various cardiovascular conditions.
Purpose of the Study:
- To review evidence associating ACE2 gene variations with CVD.
- To explore potential functional ACE2 variants affecting gene expression or activity.
- To identify the need for further research into ACE2's role in CVD.
Main Methods:
- Literature review of studies investigating ACE2 gene associations with hypertension, left ventricular hypertrophy, and coronary artery disease.
- Analysis of factors contributing to inconsistent study results.
- Consideration of potential functional ACE2 variants.
Main Results:
- ACE2 expression is altered in experimental and human cardiovascular disease.
- Circulating ACE2 activity increases with coronary heart disease and heart failure in humans.
- A significant portion of plasma ACE2 level variation is hereditary.
- Previous studies on ACE2 gene associations with CVD have yielded inconsistent results.
Conclusions:
- Inconsistencies in ACE2 gene association studies may stem from sample size, demographics, phenotype, or specific SNPs.
- Observed sex-dependence in ACE2's role warrants further investigation.
- Large-scale clinical studies are essential to clarify ACE2's role in the CVD continuum.
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