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: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 Biomarker disease BEFREE The pre-heparin LPL and EL masses were measured in fresh frozen plasma drawn and stored at various time points during coadministration of the three drugs from patients with heterozygous FH harboring a single mutation in the LDL receptor (n = 16, mean age 63 years). 27039080 2016
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 Biomarker disease CTD_human Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia. 16030523 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 Biomarker disease BEFREE Overall, this study demonstrates that macrophages from FH subjects overproduce LPL and that PDGF present in the serum from FH patients stimulates LPL secretion by control macrophages. 11861663 2002
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 GeneticVariation disease BEFREE To investigate the relationship between LPL S447X cSNP and these parameters, we studied a cohort of individuals with familial hypercholesterolemia in whom blood pressures and information regarding the use of blood pressure lowering medications were available. 11683775 2001
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 Biomarker disease BEFREE Clinical data on 80 FH individuals carrying the D9N were available and were compared with a FH control group matched for age, sex, and body mass index (n=203). 10559015 1999
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 GeneticVariation disease BEFREE These data provide evidence that a common LPL variant (N291S) significantly influences the biochemical phenotype and risk for cardiovascular disease in patients with FH. 9498535 1998
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 GeneticVariation disease BEFREE The frequency of FH as well as of LPL gene mutations tended to increase with the number of narrowed coronary arteries. 9708657 1998
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 GeneticVariation disease BEFREE We propose that mutations in the LPL gene may be a cause of low HDL cholesterol levels in some individuals heterozygous for FH. 7583547 1995
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.380 AlteredExpression disease BEFREE Our results suggest that most LDL particles, in vivo, originate from triglyceride-rich lipoproteins, that LPL plays a vital part in this process, and that absence of LPL activity protects FH subjects against the increase in LDL cholesterol. 8097805 1993