Document Detail

Common mutations of the lipoprotein lipase gene and their clinical significance.
MedLine Citation:
PMID:  11122694     Owner:  NLM     Status:  MEDLINE    
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.
S Gehrisch
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current atherosclerosis reports     Volume:  1     ISSN:  1523-3804     ISO Abbreviation:  Curr Atheroscler Rep     Publication Date:  1999 Jul 
Date Detail:
Created Date:  2001-01-26     Completed Date:  2001-07-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100897685     Medline TA:  Curr Atheroscler Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  70-8     Citation Subset:  IM    
Medizinische Fakultaet der Technischen Universitaet Dresden, Institut fuer Klinische Chemie und Laboratoriumsmedizin, 01307 Dresden, Germany.
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MeSH Terms
Arteriosclerosis / genetics*
Gene Frequency
Genetic Predisposition to Disease
Hyperlipidemias / genetics*
Introns / genetics
Lipoprotein Lipase / genetics*
Mutation, Missense
Polymorphism, Genetic
Reg. No./Substance:
EC Lipase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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