Abstract
A reduction of high density lipoprotein cholesterol (HOC) 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.
Original language | English (US) |
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Pages (from-to) | 28-34 |
Number of pages | 7 |
Journal | Nature Genetics |
Volume | 10 |
Issue number | 1 |
DOIs | |
State | Published - May 1995 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics