Current Atherosclerosis Reports

, Volume 1, Issue 1, pp 70–78

Common mutations of the lipoprotein lipase gene and their clinical significance

  • Siegmund Gehrisch
Article

DOI: 10.1007/s11883-999-0052-4

Cite this article as:
Gehrisch, S. Curr Atheroscler Rep (1999) 1: 70. doi:10.1007/s11883-999-0052-4

Abstract

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.

Copyright information

© Current Science Inc 1999

Authors and Affiliations

  • Siegmund Gehrisch
    • 1
  1. 1.Institut fuer Klinische Chemie und Laboratoriumsmedizin, Direktor Prof. Dr. Werner JarossMedizinische Fakultaet der Technischen Universitaet DresdenDresdenGermany