| | |  | | | | Record from Web of Science® | | | | | | |
| A LIPOPROTEIN-LIPASE MUTATION (ASN291SER) IS ASSOCIATED WITH REDUCED HDL CHOLESTEROL LEVELS IN PREMATURE ATHEROSCLEROSIS |
|
|
| Author(s): REYMER PWA, GAGNE E, GROENEMEYER BE, ZHANG HF, FORSYTH I, JANSEN H, SEIDELL JC, KROMHOUT D, LIE KE, KASTELEIN J, HAYDEN MR |
| Source: NATURE GENETICS Volume: 10 Issue: 1 Pages: 28-34 Published: MAY 1995 |
| Times Cited: 177 References: 41 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV BRITISH COLUMBIA, DEPT MED GENET, VANCOUVER, BC V6T 1Z4 CANADA
2. UNIV AMSTERDAM, ACAD MED CTR, DEPT VASC MED, LIPID RES GRP, 1105 AZ AMSTERDAM, NETHERLANDS
3. ERASMUS UNIV ROTTERDAM, DEPT BIOCHEM, 3000 DR ROTTERDAM, NETHERLANDS
4. ERASMUS UNIV ROTTERDAM, DEPT INTERNAL MED, 3000 DR ROTTERDAM, NETHERLANDS
5. NATL INST PUBL HLTH & ENVIRONM PROTECT, DEPT CHRON DIS & ENVIRONM EPIDEMIOL, 3720 BA BILTHOVEN, NETHERLANDS
6. INTERUNIV CARDIOL INST NETHERLANDS, 3501 DG UTRECHT, NETHERLANDS |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QX573 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |