Key result
Both loss-of-function and gain-of-function PCSK9 variants exhibit mechanistic heterogeneity, but their altered secretion or function ultimately correlates with plasma LDL cholesterol and CVD risk.
Why the study?
How do gain-of-function and loss-of-function variants in PCSK9 affect LDL cholesterol levels and cardiovascular disease risk?
How do gain-of-function and loss-of-function variants in PCSK9 affect LDL cholesterol levels and cardiovascular disease risk?
Despite mechanistic heterogeneity, altered PCSK9 function correlates directly with plasma LDL cholesterol levels and subsequent cardiovascular disease outcomes.
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Correlates PCSK9 variant effects with LDL-C and CVD risk despite heterogeneity; extends genetic insights but leaves variant-specific therapies open.
Dron et al. (2017) conducted a review in PCSK9 variants and cardiovascular disease risk. PCSK9 gain-of-function and loss-of-function variants was evaluated on LDL cholesterol and cardiovascular disease risk. Both loss-of-function and gain-of-function PCSK9 variants exhibit mechanistic heterogeneity, but their altered secretion or function ultimately correlates with plasma LDL cholesterol and CVD risk.
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