Search results for "Cholesterol Ester Transfer Protein"

showing 7 items of 17 documents

Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia

2009

Abstract Cholesteryl ester transfer protein (CETP) is a plasma glycoprotein that catalyses the transfer of cholesteryl esters from HDL to the other plasma lipoproteins. Genetic deficiency of CETP is one of the known causes of elevation of plasma HDL-C (primary hyperalphalipoproteinemia, HALP). We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. Two unrelated subjects both coming from the same geographical district, were found to be heterozygous for a nucleotide substitution in exon 6 (c.544C>T) and another subject was found to be heterozygous for a C>T transition in exon 9 (c.802C>T). Both mutations introduce a prema…

MaleHyperlipoproteinemiasMessengerDNA Mutational Analysismedicine.disease_causeExonFamilial hyperalphalipoproteinemiaChlorocebus aethiopsCETP activity; CETP gene mutations; Familial hyperalphalipoproteinemia; HDL size; Adolescent; Adult; Aged; Animals; Biomarkers; COS Cells; Cercopithecus aethiops; Cholesterol Ester Transfer Proteins; Cholesterol HDL; DNA Mutational Analysis; European Continental Ancestry Group; Female; Humans; Hyperlipoproteinemias; Italy; Male; Middle Aged; Phenotype; RNA Messenger; Transfection; Up-Regulation; Young Adult; Mutation; Cardiology and Cardiovascular MedicineGeneticsMutationTransition (genetics)biologyCETP activityMiddle AgedUp-RegulationCholesterolPhenotypeItalyCOS CellsRNA splicingFemaleFamilial hyperalphalipoproteinemia; CETP gene mutations; CETP activity; HDL sizelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineAdultHDLAdolescentEuropean Continental Ancestry GroupSocio-culturaleHDL sizeTransfectionWhite PeopleCercopithecus aethiopsYoung AdultCETP gene mutationsCholesterylester transfer proteinmedicineAnimalsHumansRNA MessengerGeneAgedCholesterol HDLIntroncetpCholesterol Ester Transfer Proteinscarbohydrates (lipids)biology.proteinRNAmutationBiomarkersMinigene
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Gene-environment interactions of CETP gene variation in a high cardiovascular risk Mediterranean population

2010

Genome-wide association studies show that cholesteryl ester transfer protein (CETP) single nucleotide polymorphisms (SNPs) are more strongly associated with HDL cholesterol (HDL-C) concentrations than any other loci across the genome. However, gene-environment interactions for clinical applications are still largely unknown. We studied gene-environment interactions between CETP SNPs and dietary fat intake, adherence to the Mediterranean diet, alcohol consumption, smoking, obesity, and diabetes on HDL-C in 4,210 high cardiovascular risk subjects from a Mediterranean population. We focused on the −4,502C>T and the TaqIB SNPs in partial linkage disequilibrium (D'= 0.88; P < 0.001). They were i…

MaleLinkage disequilibriumMediterranean dietGenome-wide association studyBiochemistryEndocrinologyRisk FactorsNutrigeneticsAged 80 and overGeneticseducation.field_of_studyBioquímica y tecnologíaMediterranean RegionMiddle AgedLipidsBiochemistry and technologyCardiovascular DiseasesFemalelipids (amino acids peptides and proteins)Alcoholmedicine.medical_specialtyPopulationSingle-nucleotide polymorphismQD415-436EnvironmentBiologyBioquímica i biotecnologiaPolymorphism Single NucleotideInternal medicineNutrició -- Aspectes genèticsMediterranean dietCholesterylester transfer proteinmedicineHumansGenetic Predisposition to DiseaseObesityeducationLife StyleAgedGenetic associationMediterrània Regió -- PoblacióCholesterol HDLCell Biologymedicine.diseaseDietary FatsObesityCholesterol Ester Transfer ProteinsDietSistema cardiovascular -- Malalties -- Factors de riscEndocrinologyFatbiology.proteinPatient-Oriented and Epidemiological Research0022-2275Genome-Wide Association Study
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Cholesteryl ester transfer protein activity and cardiovascular events in patients with chronic kidney disease stage V.

2008

Background Patients with chronic kidney disease (CKD) have an increased risk for cardiovascular events (CVE). Uraemic dyslipidaemia, which is characterized by low HDL-cholesterol (HDL-C) and elevated triglycerides' levels, may contribute to this elevated cardiovascular risk. Cholesteryl ester transfer protein (CETP) lowers HDL-C by transferring cholesterol esters to LDL and VLDL particles. We tested the hypothesis that CETP activity is associated with CVE in patients with CKD stage V. Methods We measured CETP activity and cholesterol levels in 69 haemodialysis patients. CVE and death were prospectively assessed over a follow-up period of 48 months. Results CETP activity was negatively corre…

MaleVery low-density lipoproteinmedicine.medical_specialtymedicine.medical_treatmentMyocardial InfarctionKaplan-Meier EstimateSeverity of Illness IndexCohort Studieschemistry.chemical_compoundPredictive Value of TestsRisk FactorsInternal medicineCholesterylester transfer proteinmedicineHumansMyocardial infarctionProspective StudiesAngioplasty Balloon CoronaryCoronary Artery BypassProspective cohort studyStrokeAgedAged 80 and overTransplantationbiologybusiness.industryCholesterolCholesterol HDLMiddle Agedmedicine.diseaseCholesterol Ester Transfer Proteinscarbohydrates (lipids)StrokeEndocrinologychemistryNephrologyChronic Diseasebiology.proteinlipids (amino acids peptides and proteins)FemaleKidney DiseasesStentsHemodialysisbusinessBiomarkersKidney diseaseFollow-Up StudiesNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
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Farnesoid X receptor activation increases cholesteryl ester transfer protein expression in humans and transgenic mice

2013

International audience; Cholesteryl ester transfer protein (CETP) activity results in a proatherogenic lipoprotein profile. In cholestatic conditions, farnesoid X receptor (FXR) signaling by bile acids (BA) is activated and plasma HDL cholesterol (HDL-C) levels are low. This study tested the hypothesis that FXR-mediated induction of CETP contributes to this phenotype. Patients with cholestasis and high plasma BA had lower HDL-C levels and higher plasma CETP activity and mass compared with matched controls with low plasma BA (each P < 0.01). BA feeding in APOE3*Leiden transgenic mice expressing the human CETP transgene controlled by its endogenous promoter increased cholesterol within apoB-c…

Male[SDV]Life Sciences [q-bio]Receptors Cytoplasmic and Nuclear030204 cardiovascular system & hematologyInbred C57BLBiochemistryTransgenicchemistry.chemical_compoundMice0302 clinical medicineEndocrinologyHigh-density lipoproteinLifeReceptorsnuclear receptorResearch ArticlesCells Cultured0303 health sciencesCulturedbiologyMiddle AgedUp-RegulationCytoplasmic and Nuclear/agonistslipids (amino acids peptides and proteins)FemaleEELS - Earth Environmental and Life SciencesMHR - Metabolic Health ResearchHealthy Livingmedicine.medical_specialtyTransgeneCellsMice TransgenicQD415-436macrophageReceptors Cytoplasmic and Nuclear/agonists03 medical and health sciencesDownregulation and upregulationInternal medicineCholesterylester transfer proteinmedicinehepatocyteFood and NutritionAnimalsHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biology030304 developmental biologyNutritionbile acidsCholesterolGene Expression ProfilingCell BiologyCholesterol Ester Transfer Proteinscarbohydrates (lipids)Mice Inbred C57BLlipoproteinsEndocrinologyNuclear receptorchemistrybiology.proteinFarnesoid X receptor[SDV.AEN]Life Sciences [q-bio]/Food and NutritionLipoproteinCholesterol Ester Transfer Proteins/genetics
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Mass Concentration of Plasma Phospholipid Transfer Protein in Normolipidemic, Type IIa Hyperlipidemic, Type IIb Hyperlipidemic, and Non–Insulin-Depen…

1999

Abstract —Mean plasma phospholipid transfer protein (PLTP) concentrations were measured for the first time by using a competitive enzyme-linked immunosorbent assay. PLTP mass levels and phospholipid transfer activity values, which were significantly correlated among normolipidemic plasma samples ( r =0.787, P &lt;0.0001), did not differ between normolipidemic subjects (3.95±1.04 mg/L and 575±81 nmol · mL −1 · h −1 , respectively; n=30), type IIa hyperlipidemic patients (4.06±0.84 mg/L and 571±43 nmol · mL −1 · h −1 , respectively; n=36), and type IIb hyperlipidemic patients (3.90±0.79 mg/L and 575±48 nmol · mL −1 · h −1 , respectively; n=33). No significant correlations with plasma lipid p…

Malemedicine.medical_specialtyPhospholipidEnzyme-Linked Immunosorbent AssayHyperlipidemiasCarbohydrate metabolismchemistry.chemical_compoundReference ValuesPhospholipid transfer proteinInternal medicineDiabetes mellitusCholesterylester transfer proteinBlood plasmamedicineHumansPhospholipid Transfer ProteinsGlycoproteinsbiologyChemistryImmune SeraOsmolar ConcentrationMembrane ProteinsLipid metabolismmedicine.diseaseLipidsCholesterol Ester Transfer ProteinsType iibEndocrinologyDiabetes Mellitus Type 2biology.proteinFemaleCarrier ProteinsCardiology and Cardiovascular MedicineArteriosclerosis, Thrombosis, and Vascular Biology
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Lipid and apoprotein composition of HDL in partial or complete CETP deficiency

2012

Hyperalphalipoproteinemia, as observed in patients who are either homozygous or heterozygous for cholesteryl ester transfer protein (CETP) deficiency, has been shown to be associated with striking changes in apolipoprotein size distribution, namely, of high-density lipoprotein (HDL) and HDL-like particles. We compared the effect of varying degrees of CETP activity on the HDL apolipoprotein profile in Caucasian CETP-deficient subjects and following pharmacological decrease in CETP activity, using Size Exclusion Chromatography followed by Reverse Phase Protein Array (SEC RPA). The main HDL-associated apolipoproteins (Apo), i.e. ApoA-I, ApoA-II, ApoC-I, and ApoC-III, co-eluted with the HDL pea…

Settore MED/09 - Medicina InternaApolipoprotein BCholesterol Ester Transfer Proteinmedicine.disease_causereverse phase protein arraychemistry.chemical_compoundExonMutationbiologyHomozygotescavenger receptor class B1size exclusion chromatographyLipidCholesteryl ester transfer proteinLipidstorcetrapibApolipoproteinBiochemistryELISAlipids (amino acids peptides and proteins)hyperalphalipoproteinemiaCardiology and Cardiovascular MedicineLipoproteins HDLHumandalcetrapibmedicine.medical_specialtyHeterozygoteDalcetrapibHypercholesterolemiaapolipoproteinhigh-density lipoproteinInternal medicineCholesterylester transfer proteinmedicineAnimalsHumansCholesteryl ester transfer protein; dalcetrapib; high-density lipoprotein; reverse phase protein array; scavenger receptor class B1; size exclusion chromatography; torcetrapib; apolipoprotein; hyperalphalipoproteinemia; ELISAPharmacologybusiness.industryAnimalPoint mutationCholesterol HDLTorcetrapibnutritional and metabolic diseasesLipid MetabolismCholesterol Ester Transfer Proteinscarbohydrates (lipids)Disease Models AnimalEndocrinologyApolipoproteinschemistrybiology.proteinbusinessLipoprotein
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eNOS Activation by HDL Is Impaired in Genetic CETP Deficiency.

2014

Mutations in the CETP gene resulting in defective CETP activity have been shown to cause remarkable elevations of plasma HDL-C levels, with the accumulation in plasma of large, buoyant HDL particles enriched in apolipoprotein E. Genetic CETP deficiency thus represents a unique tool to evaluate how structural alterations of HDL impact on HDL atheroprotective functions. Aim of the present study was to assess the ability of HDL obtained from CETP-deficient subjects to protect endothelial cells from the development of endothelial dysfunction. HDL isolated from one homozygous and seven heterozygous carriers of CETP null mutations were evaluated for their ability to down-regulate cytokine-induced…

Settore MED/09 - Medicina InternaCHOLESTEROL EFFLUXApolipoprotein BEpidemiologylcsh:MedicineANTIINFLAMMATORY PROPERTIESmedicine.disease_causeBiochemistryVascular Medicinechemistry.chemical_compoundHigh-density lipoproteinEnosMedicine and Health SciencesEndothelial dysfunctionlcsh:ScienceMutationMultidisciplinarybiologyHomozygoteCETP; eNOS; HDL;NeurochemistryLipidsGenetic EpidemiologyeNOSlipids (amino acids peptides and proteins)AnatomyNeurochemicalsLipoproteins HDLResearch Articlemedicine.medical_specialtyDrug Research and DevelopmentHDLNitric Oxide Synthase Type IIILipoproteinsENDOTHELIAL FUNCTIONINHIBITIONCardiologyDown-RegulationVascular Cell Adhesion Molecule-1Nitric OxideCELL-ADHESION MOLECULE-1Lipid Metabolism Inborn ErrorsESTER TRANSFER PROTEINInternal medicineCETPCholesterylester transfer proteinHuman Umbilical Vein Endothelial CellsmedicineHumansNITRIC-OXIDE SYNTHASEInflammationClinical GeneticsPharmacologyCholesterollcsh:RTorcetrapibEndothelial CellsBiology and Life SciencesProteinsnutritional and metabolic diseasesLipid MetabolismAtherosclerosismedicine.diseasebiology.organism_classificationCholesterol Ester Transfer Proteinscarbohydrates (lipids)MetabolismEndocrinologychemistryOther Clinical MedicineMutationImmunologyCardiovascular Anatomybiology.proteinlcsh:QTORCETRAPIBClinical MedicineHIGH-DENSITY-LIPOPROTEINSCAVENGER RECEPTOR BI
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