0000000000088147

AUTHOR

Peter S. Braund

showing 6 related works from this author

New susceptibility locus for coronary artery disease on chromosome 3q22.3

2009

We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).

medicine.medical_specialtyQuantitative Trait LociLocus (genetics)Single-nucleotide polymorphismGenome-wide association studyCoronary Artery DiseaseQuantitative trait locusBiologyBioinformaticsPolymorphism Single NucleotideArticleCoronary artery diseaseGermanyInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseHepatocyte Nuclear Factor 1-alphaMyocardial infarctionCase-control studyChromosomemedicine.diseaseCase-Control Studiesras ProteinsCardiologyChromosomes Human Pair 3Genome-Wide Association Study
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KCND3 is a novel susceptibility locus for early repolarization

2019

AbstractThe presence of an early repolarization pattern (ERP) on the surface electrocardiogram (ECG) is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait but molecular genetic determinants are unknown. We assessed the ERP in 12-lead ECGs of 39,456 individuals and conducted a two-stage meta-analysis of genome-wide association studies (GWAS). In the discovery phase, we included 2,181 cases and 23,641 controls from eight European ancestry studies and identified 19 genome-wide significant (p<5E-8) variants in the KCND3 (potassium voltage gated channel subfamily D member 3) gene with a p-value of 4.6E-10. …

medicine.medical_specialtyBenign early repolarizationEarly Repolarization Patternbusiness.industryGenome-wide association studymedicine.diseaseSudden cardiac deathFamily studiesInternal medicineVentricular fibrillationmedicineSusceptibility locusCardiologybusinessGenetic association
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Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

2012

To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies comprising 14,073 cases and 57,489 controls of European descent confirmed eight established T2D loci at genome-wide significance. In silico follow-up analysis of putative association signals found in independent genome-wide association studies (including 8,130 cases and 38,987 controls) performed by the DIAGRAM consortium id…

AdultMaleCandidate geneSNP ARRAYAdolescentGenotypeSUSCEPTIBILITY LOCI030209 endocrinology & metabolismGenome-wide association studySingle-nucleotide polymorphismLocus (genetics)BLOOD-PRESSUREBiologyPolymorphism Single NucleotideArticleYoung Adult03 medical and health sciences0302 clinical medicineEthnicityGeneticsHumansEUROPEAN AMERICANSGenetic Predisposition to DiseaseRESOURCE CAREGenetics(clinical)GENOME-WIDE ASSOCIATIONGenetics (clinical)Aged030304 developmental biologyGenetic associationAged 80 and overGeneticsAFRICAN-AMERICANS0303 health sciencesINSULIN-RESISTANCECOMMON VARIANTSMiddle Aged3. Good healthSNP genotypingDiabetes Mellitus Type 2Genetic LociCase-Control StudiesRISK-FACTORSFemaleTCF7L2Follow-Up StudiesGenome-Wide Association StudySNP array
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KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

2019

BACKGROUND: The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown. METHODS: To identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry. RESULTS: We identified a genome-wide significant (P < 5 × 10(–8)) locus in the potassium voltage-gated channel subfamily D member 3 (KCND3) gene that was successfully replicated in additional 1,124 cases and 12,510 controls. A subsequent joint meta-analysis of the discov…

Male0301 basic medicineGenotypeHeart VentriclesGenome-wide association studyLocus (genetics)BiologyPolymorphism Single NucleotideWhite PeopleSudden cardiac deathElectrocardiography03 medical and health sciences0302 clinical medicineGenetic variationmedicineGenetic predispositionHumansSNPGWASGenetic Predisposition to DiseaseJ-POINT ELEVATIONS422LAlleleGENOME-WIDE ASSOCIATIONGeneMUTATIONAllelesMETAANALYSISGeneticsGeneral Medicinemedicine.diseaseddc:Death Sudden CardiacShal Potassium Channels030104 developmental biologyGenetic Loci030220 oncology & carcinogenesisVentricular FibrillationCORONARY-ARTERY-DISEASEFemaleVENTRICULAR-FIBRILLATIONClinical MedicineTranscriptomeGenome-Wide Association Study
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Large-scale association analysis identifies new risk loci for coronary artery disease

2016

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r 2 &lt; 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes …

AdultAsian Continental Ancestry GroupMaleCandidate geneBIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAPopulationEuropean Continental Ancestry GroupQuantitative Trait LociCADGenome-wide association studySingle-nucleotide polymorphismCoronary Artery Disease030204 cardiovascular system & hematologyBiologyQuantitative trait locusBioinformaticsPolymorphism Single NucleotideArticleWhite Peoplecoronary artery disease risk lociCell LineCoronary artery disease03 medical and health sciences0302 clinical medicineAsian PeopleRisk FactorsmedicineHumansgeneticsGene Regulatory NetworksGenetic Predisposition to Diseasecardiovascular diseasesPolymorphismeducation030304 developmental biologyGenetic associationAgedGenetics0303 health scienceseducation.field_of_studyAdult Aged Asian Continental Ancestry Group Cell Line Coronary Artery Disease; genetics European Continental Ancestry Group; genetics Female Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Middle Aged Polymorphism; Single Nucleotide Quantitative Trait Loci Risk FactorsSingle NucleotideMiddle Agedmedicine.disease3. Good healthFemaleGenome-Wide Association StudyNature Genetics
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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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