PON1, paraoxonase 1, 5444

N. diseases: 496; N. variants: 29
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
0.390 GeneticVariation disease BEFREE PON1 QQ192 genotype showed a significantly higher association with FH (p=0.0002). 30044465 2019
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 AlteredExpression disease BEFREE Erratum: Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene. 31323079 2019
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 AlteredExpression disease BEFREE We measured the levels of low-density lipoprotein (LDL) and HDL particle subclasses, serum amyloid A1 (SAA1), paraoxonase-1 (PON1) activity and cholesterol efflux capacity (CEC) in three heterozygous FH patients. 29398508 2018
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 GeneticVariation disease BEFREE PON1 genotypes (L55M, Q192R, -107C/T, -162A/G, -824G/A, and -907G/C) were determined in 302 patients with familial hypercholesterolemia. 15576850 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 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
0.390 GeneticVariation disease BEFREE In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD. 15642273 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 AlteredExpression disease BEFREE PON1 status in conjunction with baseline HDL-C levels predicts HDL-C increment during statin therapy in FH patients. 16238680 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 Biomarker disease CTD_human PON1 status in conjunction with baseline HDL-C levels predicts HDL-C increment during statin therapy in FH patients. 16238680 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 GeneticVariation disease BEFREE In our study we assessed the frequency and genotype distribution of the PON1 and PON2 polymorphisms in 197 patients with familial hypercholesterolemia (FH), to determine the possible association between these mutations and susceptibility for CVD. 11257265 2001
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 Biomarker disease BEFREE Low PON1 activities have been found in familial hypercholesterolemia (FH) and diabetes mellitus. 10978257 2000
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.390 Biomarker disease BEFREE The homozygous wildtype LL/QQ for PON1 may represent an additional risk factor for carotid atherosclerosis in subjects with FH. 10729387 2000