Why the study?
Does the N291S mutation in the LPL gene alter the lipoprotein phenotype and increase the risk for cardiovascular disease in patients with familial hypercholesterolemia?
Population
239 subjects with familial hypercholesterolemia (FH)
Comparison
Heterozygous for the N291S mutation in the… vs FH heterozygotes without the N291S LPL mutation
Design
Cohort
Authors
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Hypothesis-generating for N291S as CVD risk modifier in FH; requires prospective confirmation before clinical integration.
Does the N291S mutation in the LPL gene alter the lipoprotein phenotype and increase the risk for cardiovascular disease in patients with familial hypercholesterolemia?
The N291S mutation in the LPL gene significantly worsens the lipid profile and increases cardiovascular disease risk in patients with familial hypercholesterolemia.
Wittekoek et al. (1998) studied this question.
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