Search results for " GW"

showing 10 items of 29 documents

Genome-Wide Association Study Identifies New Candidate Markers for Somatic Cells Score in a Local Dairy Sheep

2021

In the Mediterranean basin countries, the dairy sheep production is usually based on local breeds, which are very well-adapted to their production systems and environments and can indeed guarantee income, employment, and economic viability in areas where production alternatives are scarce or non-existent. Mastitis is still one of the greatest problems affecting commercial milk production. However, genetic evaluation of mastitis is particularly difficult because of its low heritability and the categorical nature of the trait. The aim of this study was to identify genomic regions putatively associated with somatic cells count (SCC) in the local economically important Valle del Belice sheep br…

0301 basic medicineCandidate genelcsh:QH426-470PopulationGenome-wide association studyBiologymastitis03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticomedicineGeneticsGWASlocal dairy sheepUddereducationGenetics (clinical)Genetic associationOriginal Researcheducation.field_of_studybusiness.industry0402 animal and dairy science04 agricultural and veterinary sciencesHeritabilitymedicine.disease040201 dairy & animal scienceBreedMastitisBiotechnologycandidate genes GWAS local dairy sheep mastitis SNPs arrayslcsh:Genetics030104 developmental biologymedicine.anatomical_structureMolecular MedicinebusinessSNPs arrayscandidate genesFrontiers in Genetics
researchProduct

Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆

2020

Background & Aims: Genetic factors associated with nonalcoholic fatty liver disease (NAFLD) remain incompletely understood. To date, most genome-wide association studies (GWASs) have adopted radiologically assessed hepatic triglyceride content as the reference phenotype and so cannot address steatohepatitis or fibrosis. We describe a GWAS encompassing the full spectrum of histologically characterised NAFLD. Methods: The GWAS involved 1,483 European NAFLD cases and 17,781 genetically matched controls. A replication cohort of 559 NAFLD cases and 945 controls was genotyped to confirm signals showing genome-wide or close to genome-wide significance. Results: Case-control analysis identified…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesFibrosiVARIANTLOCIPROGRESSIONGenome-wide association studyDiseaseBioinformaticsDISEASECohort Studies0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsGWASINCREASED RISKCONFERS SUSCEPTIBILITYeducation.field_of_studyFatty liverNASHMiddle Aged3. Good healthNAFLD; NASH; Fibrosis; GWAS; PNPLA3; TM6SF2; GCKR; HSD17B13; SNPPhenotypeLiver030211 gastroenterology & hepatologyFemaleLife Sciences & BiomedicineGCKRAdultPopulationSNP610 Medicine & healthGastroenterology and HepatologyPolymorphism Single NucleotideTM6SF2HSD17B1303 medical and health sciencesNAFLDmedicineGastroenterologiHumansGenetic Predisposition to DiseaseeducationPNPLA3Adaptor Proteins Signal TransducingScience & TechnologyGastroenterology & HepatologyHepatologybusiness.industrynutritional and metabolic diseasesMembrane ProteinsLipasemedicine.diseaseFibrosisPOLYMORPHISMLEPTIN RECEPTOR GENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineCase-Control StudiesHuman medicineSteatosisSteatohepatitisbusinessTM6SF2Genome-Wide Association StudyJournal of Hepatology
researchProduct

A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts

2016

OBJECTIVE: The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis. METHOD: Within the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium, genome-wide single nucleotide polymorphisms (SNPs) and ADHD symptom scores were available for 17,666 children (<13 years of age) from nine population-based cohorts. SNP-based heritability was estimated in data from the three largest cohorts. Meta-analysis based on genome-wide association (GWA) analyses w…

0301 basic medicineMaleNetherlands Twin Register (NTR)attention problemsPopulation/methodsCHILDHOODAdhd Symptoms ; Gwa ; Snp Heritability ; Attention Problems ; Meta-analysisGenome-wide association studyCHILDRENCohort Studies0302 clinical medicineDevelopmental and Educational PsychologyGENETIC INFLUENCESNETHERLANDS TWIN REGISTERChildGeneticsRISKeducation.field_of_studyGenetics Population/methods3. Good healthPsychiatry and Mental healthPERSONALITY CONSORTIUM/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalePsychologyAttention Deficit Disorder with Hyperactivity/geneticsAdolescentDEFICIT HYPERACTIVITY DISORDERPopulationSingle-nucleotide polymorphismGWAPROFILEGenetic correlationADHD symptomsArticle150 000 MR Techniques in Brain FunctionSNP heritabilityBEHAVIOR PROBLEMS03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsSNPAttention deficit hyperactivity disorderADHDHumanseducationGenetic associationNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Heritabilitymedicine.diseasemeta-analysis030104 developmental biologyGenetics PopulationTrastorn per dèficit d'atenció amb hiperactivitatAttention Deficit Disorder with HyperactivityCase-Control Studies030217 neurology & neurosurgeryGenèticaGenome-Wide Association Study
researchProduct

Meta-analysis of exome array data identifies six novel genetic loci for lung function

2018

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and the ratio of FEV1 to FVC (FEV1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P&lt;2·8x10-7) associatio…

0301 basic medicineNonsynonymous substitutionVital capacityMedicine (miscellaneous)Genome-wide association studySingle-nucleotide polymorphismBiologyGenomeGeneral Biochemistry Genetics and Molecular Biologyhengityselimet03 medical and health sciencesFEV1/FVC ratio0302 clinical medicineMedicine and Health SciencesmedicineCOPDGWASkeuhkotExome030304 developmental biologyGenetics0303 health sciencesCOPDexome arrayta1184Lung function respiratory exome array GWAS COPDBiology and Life Sciencesta3141lung functionArticlesGenomicsta3121respiratory systemrespiratorymedicine.diseaserespiratory tract diseases030104 developmental biology030220 oncology & carcinogenesisExpression quantitative trait lociResearch Article
researchProduct

Taste receptors, innate immunity and longevity: the case of TAS2R16 gene

2019

Abstract Background Innate immunity utilizes components of sensory signal transduction such as bitter and sweet taste receptors. In fact, empirical evidence has shown bitter and sweet taste receptors to be an integral component of antimicrobial immune response in upper respiratory tract infections. Since an efficient immune response plays a key role in the attainment of longevity, it is not surprising that the rs978739 polymorphism of the bitter taste receptor TAS2R16 gene has been shown to be associated with longevity in a population of 941 individuals ranging in age from 20 to 106 years from Calabria (Italy). There are many possible candidate genes for human longevity, however of the many…

0301 basic medicinelcsh:Immunologic diseases. AllergyCandidate geneAgingmedia_common.quotation_subjectPopulationImmunologyLongevityShort ReportCase control studyGenome-wide association studyBiologylcsh:Geriatrics03 medical and health sciences0302 clinical medicineImmune systemstomatognathic systemTaste receptorGWASReceptoreducationBitter taste receptormedia_commonSettore MED/04 - Patologia GeneraleGeneticsInnate immunityeducation.field_of_studyInnate immune systemLongevitylcsh:RC952-954.6030104 developmental biologyBitter taste receptors; Case control study; GWAS; Innate immunity; Longevity; TAS2R16 gene; Immunology; AgingTAS2R16 geneBitter taste receptorslcsh:RC581-607030215 immunologyImmunity & Ageing : I & A
researchProduct

Genetics of exceptional longevity: possible role of GM allotypes

2018

NOT REQUESTED FOR COMMENTARIES

0301 basic medicinelcsh:Immunologic diseases. Allergymedicine.medical_specialtyAgingmedia_common.quotation_subjectImmunologyLongevityGenome-wide association studyClinical nutritionBiologylcsh:GeriatricsCase control studies03 medical and health sciencesCase control studies; GM allotypes; GWAS; Immune response; Longevity; Immunology; Aging0302 clinical medicinemedicineGWASCase control studieImmune responsemedia_commonGeneticsGM allotypeSettore MED/04 - Patologia GeneraleGeriatrics gerontologyPublic healthLongevitylcsh:RC952-954.6030104 developmental biologyCommentaryGM allotypesGm Allotypeslcsh:RC581-607030215 immunologyImmunity & Ageing : I & A
researchProduct

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

AgingMultifactorial InheritanceBLOODEpigenetic clock05 Environmental SciencesbiomarkkeritGenome-wide association studyQH426-470Epigenesis Genetic/dk/atira/pure/core/keywords/icep0302 clinical medicineBiomarkers of agingGWASBiology (General)AdiposityGenetics11832 Microbiology and virology0303 health sciences318 Medical biotechnologyDNA methylation1184 Genetics developmental biology physiologygenomiikkaDna Methylation ; Epigenetic Clock ; Gwasddc:DNA-metylaatioINSIGHTSC-Reactive ProteinepigenetiikkaDNA methylationMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingEducational StatusICEPGenetic MarkersPROVIDESSUSCEPTIBILITY LOCIBioinformaticsQH301-705.5GenomicsBiology03 medical and health sciencesNHLBI Trans-Omics for Precision Medicine (TOPMed) ConsortiumAGESDG 3 - Good Health and Well-beingPlasminogen Activator Inhibitor 1REGRESSIONGeneticsHumansEpigeneticsGeneMETAANALYSIS030304 developmental biologyGenome HumanResearchGenetics of DNA Methylation Consortium06 Biological SciencesLipid MetabolismHuman geneticsGenetic architectureImmunity InnateikääntyminenGenetic LociCpG Islands08 Information and Computing Sciences3111 BiomedicineENRICHMENTepigenetic clock030217 neurology & neurosurgeryBiomarkersGenome-Wide Association StudyGranulocytes
researchProduct

Search for Multimessenger Sources of Gravitational Waves and High-energy Neutrinos with Advanced LIGO during Its First Observing Run, ANTARES, and Ic…

2019

[EN] Astrophysical sources of gravitational waves, such as binary neutron star and black hole mergers or core-collapse supernovae, can drive relativistic outflows, giving rise to non-thermal high-energy emission. High-energy neutrinos are signatures of such outflows. The detection of gravitational waves and high-energy neutrinos from common sources could help establish the connection between the dynamics of the progenitor and the properties of the out¿ow. We searched for associated emission of gravitational waves and high-energy neutrinos from astrophysical transients with minimal assumptions using data from Advanced LIGO from its first observing run O1, and data from the ANTARES and IceCub…

Astrofísicacollapse [supernova]neutron star: binaryEVENTS GW150914Gravitació010504 meteorology & atmospheric sciencesneutrino: energy: highAstronomyRAYBinary numberbinary [neutron star]Astrophysics7. Clean energy01 natural sciencesPhysical ChemistryAtomicIceCubeneutrinoParticle and Plasma PhysicsAstronomi astrofysik och kosmologiblack holeAstronomy Astrophysics and CosmologyLIGO010303 astronomy & astrophysicsgravitational waveELECTROMAGNETIC SIGNALSQCQBSettore FIS/01PhysicsHigh Energy Astrophysical Phenomena (astro-ph.HE)astro-ph.HE[PHYS]Physics [physics]Astrophysics::Instrumentation and Methods for Astrophysicsneutrinosgravitational waves; neutrinos520 Astronomie und zugeordnete Wissenschaftenddc:observatorySupernovagravitational wavesastrophysics: densityPhysical SciencesNeutrinoAstrophysics - High Energy Astrophysical Phenomenagravitational waves; neutrinos; Astronomy and Astrophysics; Space and Planetary ScienceAstronomical and Space SciencessignaturePhysical Chemistry (incl. Structural)supernova: collapseAstrophysics::High Energy Astrophysical PhenomenaFOS: Physical sciencesAstrophysics::Cosmology and Extragalactic AstrophysicsAstronomy & AstrophysicsGravitational wavesemission [gravitational radiation]Ones gravitacionalsCoincident0103 physical sciencesGravitational Waves Neutrinos LIGO Virgo Antares IceCubeNuclearddc:530Neutrinsenergy: high [neutrino]NeutrinosSTFCAstrophysiqueAstrophysics::Galaxy Astrophysics0105 earth and related environmental sciencesScience & TechnologyANTARESGravitational waveVirgoOrganic ChemistryAstronomyRCUKMolecularAstronomy and AstrophysicsAstronomieAstronomy and Astrophysic530 PhysikLIGOSciences de l'espaceBlack holemessengerNeutron starAntaresPhysics and AstronomySpace and Planetary ScienceFISICA APLICADA:Física::Astronomia i astrofísica [Àrees temàtiques de la UPC]gravitational radiation: emissiondensity [astrophysics]ddc:520[PHYS.ASTR]Physics [physics]/Astrophysics [astro-ph]EMISSION
researchProduct

Breast cancer genome-wide association studies: there is strength in numbers.

2012

Breast cancer (BC) is a heterogeneous disease that exhibits familial aggregation. Family linkage studies have identified high-penetrance genes, BRCA1, BRCA2, PTEN and TP53, that are responsible for inherited BC syndromes. Moreover, a combination of family-based and population-based approaches indicated that genes involved in DNA repair, such as CHEK2, ATM, BRIP and PALB2, are associated with moderate risk. Therefore, all of these known genes account for only 25% of the familial aggregation cases. Recently, genome wide association studies (GWAS) in BC revealed single nucleotide polymorphisms (SNPs) in five novel genes associated to susceptibility: TNRC9, FGFR2, MAP3K1, H19 and lymphocyte-spe…

Cancer ResearchMultifactorial InheritanceSettore MED/06 - Oncologia MedicaPALB2PopulationMAP Kinase Kinase Kinase 1Single-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsBiologyPolymorphism Single NucleotideGenetic linkageGeneticsSNPHumansGenetic Predisposition to DiseaseReceptor Fibroblast Growth Factor Type 2educationMolecular BiologyGeneCHEK2Geneticsbreast cancer GWASeducation.field_of_studyMicrofilament ProteinsHigh Mobility Group ProteinsCancer researchTrans-ActivatorsFemaleApoptosis Regulatory ProteinsReceptors ProgesteroneGenome-Wide Association StudyOncogene
researchProduct

RIP-Chip analysis supports different roles for AGO2 and GW182 proteins in recruiting and processing microRNA targets.

2019

Background MicroRNAs (miRNAs) are small non-coding RNA molecules mediating the translational repression and degradation of target mRNAs in the cell. Mature miRNAs are used as a template by the RNA-induced silencing complex (RISC) to recognize the complementary mRNAs to be regulated. To discern further RISC functions, we analyzed the activities of two RISC proteins, AGO2 and GW182, in the MCF-7 human breast cancer cell line. Methods We performed three RIP-Chip experiments using either anti-AGO2 or anti-GW182 antibodies and compiled a data set made up of the miRNA and mRNA expression profiles of three samples for each experiment. Specifically, we analyzed the input sample, the immunoprecipita…

Chromatin ImmunoprecipitationSupport Vector MachineRIP-Chip data analysisMiRNA bindingComputational biologyBiologylcsh:Computer applications to medicine. Medical informaticsBiochemistryAutoantigens03 medical and health sciencesOpen Reading Frames0302 clinical medicineStructural BiologymicroRNARIP-Chip data analysiCoding regionGene silencingHumansRNA MessengerMolecular BiologyGenelcsh:QH301-705.5030304 developmental biology0303 health sciencesBinding SitesApplied MathematicsGene Expression ProfilingResearchRNARNA-Binding ProteinsmicroRNA target predictionRISC proteins AGO2 and GW182Computer Science ApplicationsSettore BIO/18 - GeneticaMicroRNAslcsh:Biology (General)Gene Expression Regulation030220 oncology & carcinogenesismicroRNA regulatory activityArgonaute ProteinsMCF-7 Cellslcsh:R858-859.7DNA microarrayRIP-ChipBMC bioinformatics
researchProduct