Key result
Functional ABCA1 mutations linked to ~18% larger carotid wall area vs. controls.
Why the study?
Mutations in ABCA1, a major determinant of circulating HDL-C levels, were previously not associated with cardiovascular disease risk in cohort studies despite low HDL-C being a potent risk factor for CVD.
Do high impact functional ABCA1 mutations increase atherosclerotic burden in the carotid arteries compared to normolipidemic controls?
Population
36 carriers of high impact functional ABCA1 mutations and 36 normolipidemic controls
Comparison
Carriers of ABCA1 mutations vs normolipidemic controls
Design
Case-control study with 3.0 Tesla carotid MRI
Authors
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ABCA1 mutation carriers show increased carotid atherosclerosis; challenges prior null genetic studies and leaves open clinical implications.
Case-Control (n=72)
Do high impact functional ABCA1 mutations increase atherosclerotic burden in the carotid arteries compared to normolipidemic controls?
Absolute Event Rate: 18.6% vs 15.8%
p-value: p=0.02
Carriers of loss-of-function ABCA1 mutations have a significantly larger atherosclerotic burden in the carotid arteries, suggesting a higher risk for cardiovascular disease.
Bochem et al. (2012) conducted a case-control in Atherosclerotic vascular disease (n=72). High impact functional ABCA1 mutations vs. Normolipidemic controls was evaluated on Carotid mean wall area (mm2) (p=0.02). Carriers of high impact functional ABCA1 mutations had a larger carotid mean wall area compared with normolipidemic controls (18.6 vs. 15.8 mm2; P=0.02), indicating a larger atherosclerotic burden.
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