Why the study?
Does the Asn291Ser mutation in the LPL gene contribute to the expression of familial combined hyperlipidemia and altered lipid profiles in men?
Population
169 unrelated male patients suffering from familial combined hyperlipidemia and 215 male controls.
Comparison
Presence of the Asn291Ser mutation in the LPL gene vs Absence of the Asn291Ser mutation (non-carriers)
Design
Case-control
Authors
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Supports LPL genotyping in select FCH cases; hypothesis-generating for targeted therapies, with no practice change warranted.
Does the Asn291Ser mutation in the LPL gene contribute to the expression of familial combined hyperlipidemia and altered lipid profiles in men?
The Asn291Ser mutation in the LPL gene is associated with familial combined hyperlipidemia and contributes to a phenotype of high triglycerides and low HDL-cholesterol, particularly in those with BMI > 27 kg/m2.
Reymer et al. (1995) studied this question.
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