Why the study?
Do ANGPTL3 loss-of-function mutations reduce plasma lipoproteins and cardiovascular risk in affected individuals compared to controls?
Do ANGPTL3 loss-of-function mutations reduce plasma lipoproteins and cardiovascular risk in affected individuals compared to controls?
Familial combined hypolipidemia due to ANGPTL3 mutations causes significant reductions in plasma lipoproteins without increasing the risk of fatty liver, diabetes, or cardiovascular disease.
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ANGPTL3 LOF variants associate with lower lipoproteins without excess metabolic or CV risk; leaves open outcome benefit in prospective trials.
Minicocci et al. (2013) studied this question.
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