Common mutations of the lipoprotein lipase gene and their clinical significance

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.

Lipoprotein Lipase ( LPL ) Gene Variation and Progression of Carotid Artery Plaque

“…Deviation from Hardy-Weinberg equilibrium was determined by 2 analysis. Multiple regression analysis was performed with a cube root transformation of CPA, which resulted in a variable with a distribution not significantly different from normal, and a linear probability plot.…”

“…[2][3][4][5][6][7] LPL coding sequence single nucleotide polymorphisms (cSNPs) that alter the protein sequence have been associated with variation in fasting lipoproteins, [2][3][4][5][6][7] postprandial lipoproteins, 8,9 coronary artery disease, 10 -19 and cerebrovascular disease, 20,21 although there are some important disparities. 13 The relationship between LPL variation and the progression of vascular disease has not yet been examined.…”

Concurrent suppression of hyperlipidemia and intestinal polyp formation by NO-1886, increasing lipoprotein lipase activity in Min mice

“…LPL mRNA is expressed ubiquitously in the body but especially in adipose tissue and skeletal muscle, where it is synthesized then transferred to the surface of endothelial cells, to become bound to membrane-anchored heparan sulfate proteoglycans (5,6). There are reports on association of hyperlipidemia with lowered or lack of LPL (7,8). However, there have been no reports directly addressing links between LPL and colon carcinogenesis.…”

Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency

“…Some of these mutations are quite common in most populations [2,6] and many studies on the phenotypic expression of mutations in the LPL gene have been done on mutations with only a modest or no effect on lipolytic activity. In heterozygous carriers of some of these mutations an increase of plasma triglycerides and a decrease in HDL cholesterol level, the occurrence of small dense LDL, and an increased risk for atherosclerotic vascular disease have been described but the results are inconsistent or could only be demonstrated in certain subgroups.…”

“…In heterozygous carriers of some of these mutations an increase of plasma triglycerides and a decrease in HDL cholesterol level, the occurrence of small dense LDL, and an increased risk for atherosclerotic vascular disease have been described but the results are inconsistent or could only be demonstrated in certain subgroups. These studies have been extensively reviewed recently [2,6,7].…”