Common mutations of the lipoprotein lipase gene and their clinical significance

被引：43
作者：
Gehrisch S. [1 ]
机构：
[1] Institut fuer Klinische Chemie und Laboratoriumsmedizin, Direktor Prof. Dr. Werner Jaross, Medizinische Fakultaet der Technischen Universitaet Dresden, Fetscherstr. 74, Dresden
来源：
Current Atherosclerosis Reports | 1999年 / 1卷 / 1期
关键词：
Familial Combine Hyperlipidemia; Familial Hypercholesterolemia; Familial Hypercholesterolemia Patient; Lipoprotein Lipase; Lipoprotein Lipase Gene;
D O I：
10.1007/s11883-999-0052-4
中图分类号：
学科分类号：
摘要：
The accumulation of triglyceride-rich lipoproteins is an independent factor for an increased risk for premature arteriosclerosis. Common mutations in the lipoprotein lipase (LPL) gene are at least in part inherited susceptibility factors involved in the age- and sex-dependent phenotypic expression of hypertriglyceridemia. It can be estimated that about 20% of patients with hypertriglyceridemia are carriers of common LPL gene mutations (Asp9Asn, Asn291Ser, Trp86Arg, Gly188Glu, Pro207Leu, Asp250Asn) associated with the HLP. Genotyping of these LPL gene mutations is recommended especially in patients with high risk for premature arteriosclerosis. A comparably high number of individuals are carriers of common mutations (Ser447X) or silent mutations (Thr361) associated with low favorable lipids. © 1999, Current Science Inc.
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页码：70 / 78
页数：8
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