LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs268
rs268
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.030 GeneticVariation BEFREE Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies. 9264476 1997
dbSNP: rs268
rs268
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.030 GeneticVariation BEFREE We now show in approximately 1 in 20 males with proven atherosclerosis that an Asn291Ser mutation in the human lipoprotein lipase (LPL) gene is associated with significantly reduced HDL levels (P = 0.001) and results in a significant decrease in LPL catalytic activity (P < 0.0009). 7647785 1995
dbSNP: rs268
rs268
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.030 GeneticVariation BEFREE We investigated associations of LPL polymorphisms (HindIII, PvuII, Ser447-->Ter) and the newly described mutation Asn291-->Ser with the risk of myocardial infarction (MI), severity of atherosclerosis, and fasting plasma lipoprotein concentrations in the ECTIM study (614 patients and 733 controls). 8576640 1995
dbSNP: rs1801177
rs1801177
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Single nucleotide polymorphism (SNP) in lipoprotein lipase (LPL) gene (rs1801177) is strongly associated with the increased progression of atherosclerosis, threatening global public health. 29175215 2018
dbSNP: rs769442590
rs769442590
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE However, the influence of the AT1R gene A1166C polymorphism on atherosclerosis risk factors and on the development of early atherosclerosis is not clear. 19696781 2009
dbSNP: rs118204057
rs118204057
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. 17854791 2008