LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE To test whether abnormalities in multiphasic release of lipoprotein lipase are associated with hypertriglyceridemia in diabetes mellitus, postheparin lipolytic activity (PHLA) was measured during a high-dose, constant heparin infusion in 20 diabetic subjects with hypertriglyceridemia, 25 nondiabetic hypertriglyceridemic subjects and 7 normal subjects. 1165728 1975
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE Within the nuclear family, the mother and two of the proband's five siblings had fasting hypertriglyceridemia or low-normal tissue adipose LPL activities or both. 6645961 1983
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. 1619390 1992
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE Overexpression of human lipoprotein lipase in transgenic mice. Resistance to diet-induced hypertriglyceridemia and hypercholesterolemia. 8349676 1993
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Subjects with NIDDM and wild-type LPL, and nondiabetic middle-aged carriers of the 73Tyr-->Ter truncation had moderate hypertriglyceridemia (260-521 mg/dl) and reduced high density lipoprotein cholesterol. 8325986 1993
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE These findings indicate that chylomicrons compete with VLDL for removal of triglycerides by lipoprotein lipase and that the postprandial metabolism of triglyceride-rich lipoproteins is severely defective in hypertriglyceridemia. 8450056 1993
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Our data suggest that coding region mutations of the LPL gene cannot account for the elevated triglyceride and low HDL levels noted in diabetic individuals and their relatives in most NIDDM pedigrees, but the exon 2 Asn variant may contribute to the hypertriglyceridemia in some families. 7962342 1994
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Therapeutic phenotype CTD_human These results suggest that the expression of LPL enzyme protein is impaired in patients with hypertriglyceridemia coupled with hypertension, impaired glucose tolerance and hyperinsulinemia, and the impaired expression of LPL recovers during treatment with bezafibrate, resulting in improvement of hypertriglyceridemia. 8147947 1994
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype CTD_human These results suggest that the expression of LPL enzyme protein is impaired in patients with hypertriglyceridemia coupled with hypertension, impaired glucose tolerance and hyperinsulinemia, and the impaired expression of LPL recovers during treatment with bezafibrate, resulting in improvement of hypertriglyceridemia. 8147947 1994
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE We investigated measures for identification of heterozygous lipoprotein lipase (LPL) deficiency in unrelated subjects with primary type IV hyperlipoproteinemia in order to acquire a helpful clue for understanding the correlation between hypertriglyceridemia and the status of being a heterozygous carrier of an LPL gene variant. 7868979 1994
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE However, hypertriglyceridemia and an increased cholesterol-to-HDL cholesterol ratio were observed in the hyperinsulinemic state irrespective of LPL-HindIII genotype status.(ABSTRACT TRUNCATED AT 250 WORDS) 7749885 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Thus, although the precise mechanism of the effect is unclear, the data strongly suggest that the LPL-Asn9 variant is associated with and may play a direct role in predisposing carriers to develop hypertriglyceridemia. 7749858 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Heterozygosity for Asn291-->Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: effect of hyperinsulinemia on the expression of hypertriglyceridemia. 8732773 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Linkage analysis revealed no significant relationship between the D9N or N291S LPL gene mutations and the FCH phenotype (hypertriglyceridaemia, hypercholesterolaemia or increased apo B concentrations). 8872057 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE We examined the lipoprotein lipase (LPL) gene by single strand conformation polymorphism (SSCP) and by restriction fragment length polymorphism (RFLP) analysis in 106 patients with hypertriglyceridemia to screen for novel mutations and to study the contribution of LPL genetic defects in hypertriglyceridemia. 9225235 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE Familial lipoprotein lipase (LPL) deficiency is an inherited disorder of lipoprotein metabolism characterized by hypertriglyceridemia and recurrent episodes of abdominal pain and pancreatitis. 8728326 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 Biomarker phenotype BEFREE Correction of hypertriglyceridemia and impaired fat tolerance in lipoprotein lipase-deficient mice by adenovirus-mediated expression of human lipoprotein lipase. 9409224 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 AlteredExpression phenotype BEFREE This suggests that the extensive hypertriglyceridemia in our patient was due to an L-asparaginase-induced decrease in LPL activity. 9264396 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE These results provide evidence of interaction between obesity and the HindIII polymorphism of the lipoprotein lipase gene on the risk of HTG. 9272150 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Patients with mutations on both alleles of the lipoprotein lipase gene resulting in complete lipoprotein lipase deficiency exhibit the chylomicronemia syndrome with severe hypertriglyceridemia and increased risk of pancreatitis and possibly of ischemic heart disease. 9323055 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Gene therapy to deliver and express a corrective lipoprotein lipase (LPL) gene may improve the lipid profile and reduce the morbidity and potential atherogenic risk from hypertriglyceridemia and dyslipoproteinemia in patients with complete or partial LPL deficiency. 9017424 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE However, significant heterogeneity in their plasma triglyceride levels has been found, even among individuals carrying the same LPL gene mutation, indicating that factors other than LPL deficiency could affect the phenotypic expression of hypertriglyceridemia in the heterozygous state. 9392497 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE The Asn-291-->Ser and Ser-477-->Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia. 9395789 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE The two CAD patients heterozygous for the LPL(Gly188-->Glu) mutation, however, had hypertriglyceridemia and low plasma high density lipoprotein levels. 9627528 1998
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.600 GeneticVariation phenotype BEFREE Here we report a novel LPL gene mutation (Glu421Lys), in a previously healthy primigravid woman who died from hypertriglyceridemia-induced pancreatitis during the last trimester of pregnancy. 9498099 1998