0000000000414488

AUTHOR

Florian Ernst

showing 3 related works from this author

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness…

2011

Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions a…

AgingMultifunction cardiogramGenome-wide association studyDiseaseCoronary Artery Disease030204 cardiovascular system & hematologyCarotid Intima-Media ThicknessCoronary artery diseaseCohort Studies0302 clinical medicinecardiovascular diseaseRisk FactorsAging/geneticsgeneticsMyocardial infarctionEuropean Continental Ancestry Group/geneticsriskPlaque0303 health scienceseducation.field_of_studyGenomeCoronary Artery Disease/geneticsHeartSingle NucleotidePlaque Atherosclerotic/geneticsMiddle AgedPlaque Atherosclerotic3. Good healthPhenotypeHeart/physiopathologyCardiologyHumanAdultmedicine.medical_specialtygenetic epidemiologyGenotypesubclinical atherosclerosisPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideWhite PeopleArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingInternal medicinemedicinecohort studyHumanscarotid intima media thicknessGenetic Predisposition to DiseasePolymorphismeducation030304 developmental biologyAgedAtherosclerotic/geneticsGenome Humanmedicine.diseaseAtherosclerosismeta-analysisAtherosclerosis/geneticsIntima-media thicknessGenetic LociGenome-Wide Association Study
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

2013

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional…

Candidate geneInhibins/geneticsGenome-wide association studyGENETIC-LOCIchemistry.chemical_compound0302 clinical medicineserum urateGene FrequencyGout/bloodassociation analysis serum urateGlucose/metabolismSettore MED/14 - NEFROLOGIAHyperuricemiaserum; urate; genePOPULATIONMETABOLIC SYNDROMEGenetics0303 health scienceseducation.field_of_studybiologyPolymorphism Single Nucleotide/genetics3. Good healthHYPERURICEMIAGenetic Loci/genetics/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingSLC22A12Single Nucleotide/geneticsSNPsSignal TransductionMOLECULAR PHYSIOLOGYserum urate concentrations gout genome-wide meta-analysisEuropean Continental Ancestry GroupPopulationPolymorphism Single NucleotideWhite PeopleUric Acid/bloodserum urate concentrationsgenome-wide meta-analysis03 medical and health sciencesSDG 3 - Good Health and Well-beinguric acidGeneticsmedicineHumansInhibinsPolymorphismeducation030304 developmental biology030203 arthritis & rheumatologyAnalysis of VarianceGOUTIDENTIFICATIONTRANSPORTERCARDIOVASCULAR-DISEASE RISKta3121medicine.diseaseassociation analysisGoutmeta-analysisGlucosechemistryGenetic Locigenome-wide association studiesbiology.proteinSignal Transduction/geneticsUric acidURIC-ACID LEVELSGenome-Wide Association StudySLC2A9
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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
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