0000000000419632

AUTHOR

Nelson B. Freimer

showing 5 related works from this author

A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol

2011

Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene–environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on …

Netherlands Twin Register (NTR)Adipose Tissue/metabolismAdipose Tissue/metabolism; Body Fat Distribution; Cadherins/genetics; Cholesterol/blood; Cholesterol/genetics; Chromosome Mapping; Chromosomes Human Pair 4/genetics; European Continental Ancestry Group/genetics; Genome-Wide Association Study; Genotype; Humans; Lipids/blood; Lipids/genetics; Lipoproteins/blood; Lipoproteins/genetics; Phenotype; Polymorphism Single Nucleotide; Quantitative Trait Loci/genetics; Risk Factors; Triglycerides/blood; Triglycerides/genetics; Waist-Hip RatioGenome-wide association study0302 clinical medicineGenetics(clinical)AetiologyEuropean Continental Ancestry Group/genetics0303 health scienceseducation.field_of_studyta3141ta3142ASSOCIATIONCadherinsLipids3. Good healthTriglycerides/bloodCholesterolAdipose TissueDENSITY-LIPOPROTEIN CHOLESTEROLTRIGLYCERIDEChromosomes Human Pair 4SMOKING/dk/atira/pure/subjectarea/asjc/1100/1105Human/dk/atira/pure/subjectarea/asjc/1300/1311/dk/atira/pure/subjectarea/asjc/1300/1312GenotypeLipoproteinseducationEuropean Continental Ancestry GroupQuantitative Trait LociLocus (genetics)Cholesterol/bloodWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingClinical ResearchGenome-Wide Association StudiesGeneticsHumansPolymorphismeducationBiologyMolecular BiologyPOLYMORPHISMSEcology Evolution Behavior and Systematics0604 GeneticsHDL CHOLESTEROLScience & TechnologyCadherins/geneticsChromosomes Human Pair 4/geneticsQuantitative Trait Loci/geneticsDensity-lipoprotein cholesterol; HDL chloesterol; Association; Gene; Smoking; Plasma; Triglyeride; Obesity; Lipids; PolymorphismsDevelopmental BiologyCancer Research030204 cardiovascular system & hematologyWaist–hip ratioRisk FactorsGenotype2.1 Biological and endogenous factorsBody Fat DistributionGENETICS & HEREDITYGenetics (clinical)GeneticsPLASMAChromosome MappingSingle NucleotideENGAGE ConsortiumPair 4/geneticsPhenotypePair 4OBESITY/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being/dk/atira/pure/subjectarea/asjc/1300/1306Life Sciences & BiomedicineResearch ArticleLIPIDSlcsh:QH426-470PopulationQuantitative trait locusBiologyPolymorphism Single NucleotideChromosomes/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Lipoproteins/bloodgene ; waist-to-hip ratio ; cholesterolAlleleTriglycerides030304 developmental biologyWhitesLipids/bloodWaist-Hip RatioHuman GenomeHuman Genetics/dk/atira/pure/subjectarea/asjc/2700/2716HeritabilityGENEProtocadherinslcsh:Genetics3111 BiomedicineGenome-Wide Association StudyPLoS Genetics
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Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumpti…

2011

Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene ( AUTS2 ) was associated with alcohol consumption at genome-wide significance ( P = 4 × 10 −8 to P = 4 × 10 −9 ). We found a genotype-specific expression of AUTS2 in 9…

Netherlands Twin Register (NTR)alcohol consumptionPopulationautismSingle-nucleotide polymorphismGenome-wide association studygenome-wide analysis; epidemiologic; transcriptional expression analysis; alcohol consumption; autismBiologyQuantitative trait locus03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingADDICTIVE BEHAVIORDEPENDENCEGenotype/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineSNPeducationGenotyping030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryepidemiologicMENAlcohol Drinking/genetics; Alcohol Drinking/metabolism; Animals; Drosophila melanogaster/genetics; Drosophila melanogaster/metabolism; European Continental Ancestry Group/genetics; Female; Gene Expression Regulation/genetics; Genome-Wide Association Study; Genotype; Humans; Male; Mice; Nuclear Proteins/biosynthesis; Nuclear Proteins/genetics; Polymorphism Single Nucleotide; Proteins/genetics; Proteins/metabolism; Quantitative Trait HeritableBiological Sciencesmedicine.diseaseGENOTYPES3. Good healthDROSOPHILA/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAutismtranscriptional expression analysis030217 neurology & neurosurgerygenome-wide analysisProceedings of the National Academy of Sciences of the U.S.A.
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

2013

AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …

Netherlands Twin Register (NTR)MedizinInheritance PatternsSocial SciencesAUTISM SPECTRUM DISORDERSnosologyheritabilityCOMMON SNPS0302 clinical medicineCrohn DiseaseSCHIZOPHRENIAChildPsychiatric geneticsGenetics & HeredityMAJOR DEPRESSIVE DISORDERRISK0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDER120 000 Neuronal CoherenceMental DisordersVariantsBIPOLAR DISORDERASSOCIATIONGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]Psychiatric DisordersCROHNS-DISEASE3. Good healthSchizophreniagenetic association studyMedical geneticsMajor depressive disorderSNPsAdultmedicine.medical_specialtygenetic etiologymedical geneticsDEFICIT HYPERACTIVITY DISORDERBiologyPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleGenomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]HeritabilityGenetic Heterogeneity03 medical and health sciencesPrevalence of mental disordersmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyGeneticsmedicineddc:61HumansAttention deficit hyperactivity disorderGenetic Predisposition to Disease[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyDCN PAC - Perception action and control NCEBP 9 - Mental healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersBipolar disorderPsychiatry030304 developmental biologyDepressive Disorder MajorGenome HumanGenetic heterogeneitymedicine.diseaseschizophreniaAttention Deficit Disorder with HyperactivityChild Development Disorders PervasivePerturbações do Desenvolvimento Infantil e Saúde Mental030217 neurology & neurosurgeryGenome-Wide Association Study
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

2015

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…

Netherlands Twin Register (NTR)Statistical methodsAutismMedizinLOCIGenome-wide association studyheritabilityGenome-wide association studiesHistonesGenètica mèdica0302 clinical medicineHistone methylationDatabases Genetic2.1 Biological and endogenous factorsPsychologyGWASAetiologyPsychiatric geneticsR2Cbipolar disorderPsychiatry0303 health sciencesDisordersLociDepressionGeneral NeuroscienceMental DisordersMedical geneticsMETHYLATIONBrain3rd-DASSerious Mental IllnessPsychiatric Disorders3. Good healthHistoneMental HealthSchizophreniaMental DisorderCognitive Sciences[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]PromotersBDCBURDENRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryHumanSignal Transductionmedicine.medical_specialtyDISORDERSGenomicsNetwork and Pathway Analysis Subgroup of Psychiatric Genomics ConsortiumBurdenBiologyMethylationArticleBiological pathwayPROMOTERS03 medical and health sciencesDatabasesGeneticmedicineGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to Diseasehistone methylationBipolar disorderPsiquiatriaAUTISMPsychiatry030304 developmental biologyGenetic associationNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Neurology & NeurosurgeryNeuroscience (all)Human GenomeNeurosciencesmedicine.diseaseBrain DisordersGood Health and Well BeingDE-NOVO MUTATIONSPerturbações do Desenvolvimento Infantil e Saúde MentalRC0321SchizophreniaGenome-wide Association StudiesDe-novo mutationsmajor depressionNeuroscience030217 neurology & neurosurgeryGenome-Wide Association Study
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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
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