A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
- 1 May 1995
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 10 (1) , 28-34
- https://doi.org/10.1038/ng0595-28
Abstract
A reduction of high density lipoprotein cholesterol (HDC) is recognized as an important risk factor for coronary artery disease (CAD). We now show in approximately 1 in 20 males with proven atherosclerosis that an Asn291Ser mutation in the human lipoprotein lipase (LPL) gene is associated with significantly reduced HDL levels (P=0.001) and results in a significant decrease in LPL catalytic activity (P<0.0009), The relative frequency of this mutation increases in those patients with lower HDL cholesterol levels, In vitro mutagenesis and expression studies confirm that this change is associated with a significant reduction in LPL activity. Our data support the relationship between LPL activity and HDL-C levels, and suggest that a specific LPL mutation may be a factor in the development of atherosclerosis.Keywords
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