Search results for "GWA"

showing 10 items of 94 documents

Heritability and genome-wide association analyses of sleep duration in children: The EAGLE Consortium.

2016

STUDY OBJECTIVES: Low or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits.METHODS: We performed a population-based molecular genetic study, using data form the EArly Genetics and Life course Epidemiology (EAGLE) Cons…

Male0301 basic medicineTime FactorsAdolescentSleep Duration/Sleep QualityPopulationSingle-nucleotide polymorphismGenome-wide association studyPolymorphism Single NucleotideWhite PeopleSNP heritabilityCohort Studies03 medical and health sciencesQuantitative Trait Heritable0302 clinical medicine030225 pediatricsPhysiology (medical)Genetic variationHumansSNPMedicineLongitudinal StudiesChildeducationeducation.field_of_studybusiness.industryExcessive sleepHeritabilitygenome-wide association study (GWAS)medicine.disease3. Good healthpathway analysismeta-analysis030104 developmental biologyDiabetes Mellitus Type 2Child PreschoolMeta-analysisFemaleNeurology (clinical)Sleepbusinesschildhood sleep durationSnp Heritability ; Genome-wide Association Study (gwas) ; Meta-analysis ; Childhood Sleep Duration ; Pathway AnalysisGenome-Wide Association StudyDemography
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Functional Inactivation of the Genome-Wide Association Study Obesity Gene Neuronal Growth Regulator 1 in Mice Causes a Body Mass Phenotype

2012

To date, genome-wide association studies (GWAS) have identified at least 32 novel loci for obesity and body mass-related traits. However, the causal genetic variant and molecular mechanisms of specific susceptibility genes in relation to obesity are yet to be fully confirmed and characterised. Here, we examined whether the candidate gene NEGR1 encoding the neuronal growth regulator 1, also termed neurotractin or Kilon, accounts for the obesity association. To characterise the function of NEGR1 for body weight control in vivo, we generated two novel mutant mouse lines, including a constitutive NEGR1-deficient mouse line as well as an ENU-mutagenised line carrying a loss-of-function mutation …

MaleCandidate geneMutantlcsh:MedicineGenome-wide association studymedicine.disease_causeEndoplasmic ReticulumEatingGene Knockout TechniquesMice0302 clinical medicineEndocrinologylcsh:ScienceObesity; NEGR1; GWAS; body weight control2. Zero hungerGenetics0303 health sciencesMutationMultidisciplinaryNeuronal growth regulator 1GenomicsPhenotypePhenotypeMedicineFemaleFunction and Dysfunction of the Nervous SystemResearch ArticleGenotypeHypothalamusNerve Tissue ProteinsBiologyMotor ActivityDiet High-FatCell Line03 medical and health sciencesGenetic MutationGenome Analysis ToolsmedicineGeneticsGenome-Wide Association StudiesCell AdhesionNeuritesAnimalsHumansObesityGene SilencingGeneBiologyAlleles030304 developmental biologyNutritionlcsh:RBody WeightMembrane ProteinsHuman GeneticsNeuroendocrinologyBody HeightMetabolic DisordersGenetics of DiseaseLean body masslcsh:QEnergy Metabolism030217 neurology & neurosurgeryGenome-Wide Association StudyPLoS ONE
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Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis

2012

Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-analysis of European-ancestry and Japanese genome-wide association studies, we identified six loci at genome-wide significance (p −8 ) for serum albumin ( HPN-SCN1B , GCKR-FNDC4 , SERPINF2-WDR81 , TNFRSF11A-ZCCHC2 , FRMD5-WDR76 , and RPS11-FCGRT , in up to 53,190 European-ancestry and 9,380 Japanese individuals) and three loci for total protein ( TNFRS13B , 6q21.3, and ELL2 , in …

MaleLinkage disequilibriumGenome-wide association studyDETERMINANTSLinkage DisequilibriumMiceGenetics(clinical)POPULATIONGenetics (clinical)SNPSRISKGeneticseducation.field_of_studybiologyChromosome MappingBlood ProteinsIDENTIFYMiddle AgedFemaleAdultPopulationSerum albuminserum protein; albumin; GWASSingle-nucleotide polymorphismLocus (genetics)ALBUMINWhite PeopleAsian PeopleGene mappingSDG 3 - Good Health and Well-beingReportBIOCHEMICAL TRAITSFC-RECEPTORGeneticsAnimalsHumansGenetic Predisposition to DiseaseSMOKING-BEHAVIORddc:610GENOME-WIDE ASSOCIATIONeducationAllelesSerum AlbuminAgedGenetic associationGenetic LociProtein BiosynthesisProteolysisbiology.proteinRibosomesGenome-Wide Association StudyThe American Journal of Human Genetics
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Association Mapping Based on a Common-Garden Migration Experiment Reveals Candidate Genes for Migration Tendency in Brown Trout

2019

A better understanding of the environmental and genetic contribution to migratory behavior and the evolution of traits linked to migration is crucial for fish conservation and fisheries management. Up to date, a few genes with unequivocal influence on the adoption of alternative migration strategies have been identified in salmonids. Here, we used a common garden set-up to measure individual migration distances of generally highly polymorphic brown trout Salmo trutta from two populations. Fish from the assumedly resident population showed clearly shorter migration distances than the fish from the assumed migratory population at the ages of 2 and 3 years. By using two alternative analytical …

MalevaelluskalatlohikalatRADseqQH426-470InvestigationsPolymorphism Single NucleotidegenotyyppiPhenotypetaimensalmonidsGeneticslife-history strategiesAnimalsGWASAnimal MigrationFemaleLife-history strategiesgeneettiset tekijätFinlandSalmonidaeGenome-Wide Association Study
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Characterization of the interannual and intraseasonal variability of West African vegetation between 1982 and 2002 by means of NOAA AVHRR NDVI data

2007

AbstractThe interannual and intraseasonal variability of West African vegetation over the period 1982–2002 is studied using the normalized difference vegetation index (NDVI) from the Advanced Very High Resolution Radiometer (AVHRR).The novel independent component analysis (ICA) technique is applied to extract the main modes of the interannual variability of the vegetation, among which two modes are worth describing. The first component (IC1) describes NDVI variability over the Sahel from August to October. A strong photosynthetic activity over the Sahel is related to above-normal convection and rainfall within the intertropical convergence zone (ITCZ) in summertime and is partly associated …

Mediterranean climateWet seasonAtmospheric Science010504 meteorology & atmospheric sciencesAdvanced very-high-resolution radiometerATMOSPHERIC DYNAMICS0211 other engineering and technologies02 engineering and technology01 natural sciencesNormalized Difference Vegetation IndexRAINY-SEASONPHENOLOGYEL-NINO[ SDU.ENVI ] Sciences of the Universe [physics]/Continental interfaces environmentPrecipitation[SDU.ENVI]Sciences of the Universe [physics]/Continental interfaces environmentINDEX021101 geological & geomatics engineering0105 earth and related environmental sciencesAIR-TEMPERATUREINDEPENDENT COMPONENT ANALYSISIntertropical Convergence Zone15. Life on landSea surface temperature13. Climate actionClimatologySEA-SURFACE TEMPERATUREPRECIPITATIONEnvironmental scienceOutgoing longwave radiationSAHEL RAINFALL
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The Satellite Application Facility for Land Surface Analysis

2011

Information on land surface properties finds applications in a range of areas related to weather forecasting, environmental research, hazard management and climate monitoring. Remotely sensed observations yield the only means of supplying land surface information with adequate time sampling and a wide spatial coverage. The aim of the Satellite Application Facility for Land Surface Analysis (Land-SAF) is to take full advantage of remotely sensed data to support land, land-atmosphere and biosphere applications, with emphasis on the development and implementation of algorithms that allow operational use of data from European Organization for the Exploitation of Meteorological Satellites (EUMET…

MeteorologyLongwaveWeather forecastingBiosphereVegetationAlbedocomputer.software_genreEvapotranspirationGeneral Earth and Planetary SciencesEnvironmental scienceSatelliteSurface watercomputerRemote sensingInternational Journal of Remote Sensing
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

2020

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank p…

Netherlands Twin Register (NTR)LimfomesLOCIGenome-wide association studyDiseaseVARIANTSDISEASE0302 clinical medicineLeukocytestelomere lengthGWASGenetics(clinical)CàncerMendelian randomisationThyroid cancerGenetics (clinical)11 Medical and Health SciencesCancerGeneticsGenetics & HeredityRISK0303 health sciencesTelòmerage-related disease; biological aging; Mendelian randomisation; telomere length; Humans; Leukocytes; Nucleotides; Genome-Wide Association Study; TelomereNucleotidesmeta-analyysigenomiikkaGenomicsTelomereCANCER3. Good health030220 oncology & carcinogenesisbiological agingMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMedical geneticsBiomarker (medicine)HEARTLymphomasLife Sciences & BiomedicineMedical Geneticsmedicine.medical_specialtyGENESDATABASEAge-related Disease ; Biological Aging ; Mendelian Randomisation ; Telomere LengthBiologyArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingMendelian randomization/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineGeneticsJournal ArticleHumans030304 developmental biologyMedicinsk genetikage-related diseaseScience & TechnologyCancer06 Biological Sciencesmedicine.diseaseTelomereGenòmicaikääntyminen1182 Biochemistry cell and molecular biologytelomeeritbiologicalGenome-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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Genetic determinants of ototoxicity during and after childhood cancer treatment: Protocol for the pancarelife study

2019

BACKGROUND: Survival rates after childhood cancer now reach nearly 80% in developed countries. However, treatments that lead to survival and cure can cause serious adverse effects with lifelong negative impacts on survivor quality of life. Hearing impairment is a common adverse effect in children treated with cisplatin-based chemotherapy or cranial radiotherapy. Ototoxicity can extend from high-tone hearing impairment to involvement of speech frequencies. Hearing impairment can impede speech and language and neurocognitive development. Although treatment-related risk factors for hearing loss following childhood cancer treatment have been identified, the individual variability in toxicity of…

OncologyCandidate gene020205 medical informaticscisplatinCHILDREN02 engineering and technologyVARIANTSPLATINUM-INDUCED OTOTOXICITYChildhood cancer survivors0302 clinical medicineTPMT0202 electrical engineering electronic engineering information engineeringProtocolGWASgenetics030212 general & internal medicineSURVIVORSGeneral MedicineCHEMOTHERAPY3. Good healthototoxicityCohortmedicine.symptomcandidate genes020 Library & information sciencesmedicine.medical_specialtyINDUCED HEARING-LOSSHearing losschildhood cancer survivors610 Medicine & healthINTERNATIONAL SOCIETYCandidate genes03 medical and health sciencesACYP2OtotoxicitySDG 3 - Good Health and Well-being360 Social problems & social servicesInternal medicinemedicineGenetic predispositionGeneticsCISPLATIN-INDUCED OTOTOXICITYAdverse effecthearing lossbusiness.industryCancerHearing lossmedicine.diseaseOtotoxicityClinical trialCisplatinbusinessPolymorphismspolymorphisms
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