0000000000536115

AUTHOR

Maja Barbalić

showing 5 related works from this author

Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflam…

2010

AbstractTo identify the genetic basis of circulating concentrations of monocyte chemoattractant protein-1 (MCP-1), we conducted genome-wide association analyses for MCP-1 in 3 independent cohorts (n = 9598). The strongest association was for serum MCP-1 with a nonsynonymous polymorphism, rs12075 (Asp42Gly) in DARC, the gene for Duffy antigen receptor for chemokines, a known vascular reservoir of proinflammatory cytokines (minor allele frequency, 45.6%; P < 1.0 * 10−323). This association was supported by family-based genetic linkage at a locus encompassing the DARC gene (genome-wide P = 8.0 * 10−13). Asp42Gly accounted for approximately 20% of the variability in serum MCP-1 concentration…

AdultMaleCCR2ChemokineErythrocytesImmunologyReceptors Cell SurfacePolymorphism Single NucleotideBiochemistryProinflammatory cytokineCohort StudiesmedicineHumansCytokine bindingReceptorInterleukin 6Chemokine CCL2biologyMonocyteCell BiologyHematologyMiddle AgedMolecular biologymedicine.anatomical_structureChromosomes Human Pair 1Genetic LociImmunologybiology.proteinFemaleInterleukin 18Inflammation MediatorsDuffy Blood-Group SystemGenome-Wide Association StudyBlood
researchProduct

Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

2012

Background— Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results— Continuous ABI and PAD (ABI ≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ≈2.5 million single nucleotide polymorphisms (SNPs) in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fi…

Malegenetic associationGenome-wide association studyAetiology screening and detection [ONCOL 5]030204 cardiovascular system & hematologyBioinformaticsCohort Studies0302 clinical medicineRisk FactorsGenotypeCARDIOVASCULAR RISK-FACTORSInternational HapMap ProjectGenetics (clinical)POPULATIONGeneticsAged 80 and overPeripheral Vascular Diseases0303 health scienceseducation.field_of_studyAge FactorsMiddle AgedPhenotypeperipheral vascular diseaseMeta-analysiscardiovascular system/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCORONARY-ARTERY-DISEASEFemaleCardiology and Cardiovascular MedicineChromosomes Human Pair 9AdultSUSCEPTIBILITY LOCIGenotypePopulationHapMap ProjectBiologyPolymorphism Single NucleotideArticleMolecular epidemiology [NCEBP 1]03 medical and health sciencesSex FactorsSDG 3 - Good Health and Well-beingGeneticscohort studyHumansAnkle Brachial Indexcardiovascular diseasesAlleleeducationHealth aging / healthy living Cardiovascular diseases [IGMD 5]AllelesMolecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologyGenetic associationAgedCyclin-Dependent Kinase Inhibitor p15ABDOMINAL AORTIC-ANEURYSMcohort study ; genetic association ; genome-wide association study ; meta-analysis ; peripheral vascular diseasegenome-wide association studyMORTALITYChromosomeGENEmeta-analysisbody regionsLogistic ModelsMYOCARDIAL-INFARCTIONATHEROSCLEROSISSEQUENCE VARIANThuman activities
researchProduct

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

2012

BACKGROUND: High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal. METHODS: We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Se…

LOCIMyocardial Infarction030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineHigh-density lipoproteinGene Frequencyplasma HDL cholesterol ; mendelian randomisation ; MIHDL cholesterolsingle nucleotide polymorphismRisk FactorsGENETIC-VARIANTSARTERY-DISEASEProspective StudiesMyocardial infarction0303 health sciencesHDL cholesterol; myocardial infarction; single nucleotide polymorphismISCHEMIC CARDIOVASCULAR-DISEASEGeneral Medicine3. Good healthCardiologylipids (amino acids peptides and proteins)medicine.medical_specialtyDalcetrapibSingle-nucleotide polymorphismPolymorphism Single Nucleotide03 medical and health sciencesInternal medicinemedicineHumansCORONARY-HEART-DISEASEGenetic Predisposition to DiseaseMETAANALYSIS030304 developmental biologyBLOOD CHOLESTEROLbusiness.industryCholesterolCholesterol HDLCase-control studyCholesterol LDLLipaseOdds ratioMendelian Randomization Analysismedicine.diseaseENDOTHELIAL LIPASEATHEROSCLEROSISchemistryCase-Control StudiesbusinessHIGH-DENSITY-LIPOPROTEINBiomarkersEvacetrapibThe Lancet
researchProduct

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

2016

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation o…

0301 basic medicineNephrologyGenetics and Molecular Biology (all)estimated glomerular filtration rateestimated glomerular filtration rate chronic kidney disease genetic determinantsGeneral Physics and AstronomyKidney developmentGenome-wide association studyBiochemistrySettore MED/14 - NEFROLOGIARenal InsufficiencyChronicGeneticsAGEN Consortiumddc:616education.field_of_studyKidneyStage renal-diseaseMultidisciplinaryGenome-wide associationCHARGe-Heart Failure GroupGene Expression Regulation; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic; Genetic Predisposition to Disease; Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)QChemistry (all)MetaanalysisGene Expression Regulation; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic/geneticsBiological sciencesSerum creatininemedicine.anatomical_structureEfficientRonyons -- FisiologiaHypertensionICBP ConsortiumTransmembrane transporter activitygenetic association loci kidney functionCARDIOGRAMHumanmedicine.medical_specialtyGenotypeSciencePopulationRenal functionECHOGen ConsortiumReplicationBiologyEnvironmentResearch SupportGeneral Biochemistry Genetics and Molecular BiologyN.I.H.genetic determinants03 medical and health sciencesPhysics and Astronomy (all)GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSIONKidney functionResearch Support N.I.H. ExtramuralInternal medicineMD MultidisciplinarymedicineGeneticsJournal ArticleHumanseGFRcrea; eGFRcysGenetic Predisposition to Diseaseddc:610GenetikRenal Insufficiency ChronicMortalityeducationddc:613Biochemistry Genetics and Molecular Biology (all)urogenital systemIndividualsExtramuralGeneral Chemistryta3121medicine.diseaseR1030104 developmental biologyGene Expression RegulationBiochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)570 Life sciences; biologyGenèticachronic kidney diseaseKidney diseaseGenome-Wide Association StudyMeta-Analysis
researchProduct

Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels

2011

Background— C-reactive protein (CRP) is a heritable marker of chronic inflammation that is strongly associated with cardiovascular disease. We sought to identify genetic variants that are associated with CRP levels. Methods and Results— We performed a genome-wide association analysis of CRP in 66 185 participants from 15 population-based studies. We sought replication for the genome-wide significant and suggestive loci in a replication panel comprising 16 540 individuals from 10 independent studies. We found 18 genome-wide significant loci, and we provided evidence of replication for 8 of them. Our results confirm 7 previously known loci and introduce 11 novel loci that are implicated in p…

Netherlands Twin Register (NTR)Genome-wide association studyDisease030204 cardiovascular system & hematology0302 clinical medicineDESIGNRisk FactorsFRAMINGHAMNETHERLANDS TWIN REGISTERgeneticsCRP GENE2. Zero hungerGenetics0303 health scienceseducation.field_of_studybiologyCOMMON VARIANTS3. Good healthHNF1AC-Reactive Proteinmyocardial infarctionCardiovascular DiseasesMeta-analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCardiology and Cardiovascular MedicineVasculitisPopulationArticle03 medical and health sciencesINFLAMMATIONSDG 3 - Good Health and Well-beingPhysiology (medical)/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineHumansGenetic Predisposition to DiseaseCORONARY-HEART-DISEASEALPHA-GENEeducation030304 developmental biologyGenetic associationEPIDEMIOLOGIC APPLICATIONSgenome-wide association studyC-reactive proteinmedicine.diseasemeta-analysisinflammationbiology.proteinGENETICALLY ISOLATED POPULATIONMetabolic syndromeBiomarkers
researchProduct