Search results for "Gwas"

showing 10 items of 50 documents

Genetic determinants of seed protein plasticity in response to the environment in Medicago truncatula

2021

As the frequency of extreme environmental events is expected to increase with climate change, identifying candidate genes for stabilizing the protein composition of legume seeds or optimizing this in a given environment is increasingly important. To elucidate the genetic determinants of seed protein plasticity, major seed proteins from 200 ecotypes of Medicago truncatula grown in four contrasting environments were quantified after one-dimensional electrophoresis. The plasticity index of these proteins was recorded for each genotype as the slope of Finlay and Wilkinson's regression and then used for genome-wide association studies (GWASs), enabling the identification of candidate genes for d…

0106 biological sciences0301 basic medicineCandidate geneGenotypelegumesMutantVitamin UGenome-wide association studyPlant ScienceBiologymethionine recycling01 natural sciences[SDV.GEN.GPL]Life Sciences [q-bio]/Genetics/Plants genetics03 medical and health scienceschemistry.chemical_compoundMethionineStress PhysiologicalMedicago truncatulaGeneticsStorage protein[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyGenome-wide association studies (GWAS)GenePlant Proteins2. Zero hungerchemistry.chemical_classificationGeneticsMethionineSeed Storage Proteinsfood and beveragesGlobulinsCell Biologybiology.organism_classificationMedicago truncatulaMetabolic pathwayPhenotype030104 developmental biologychemistrystorage proteins13. Climate actionplasticityMutationSeedsseedGenome-Wide Association Study010606 plant biology & botany
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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
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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
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GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathw…

2017

Contains fulltext : 177350.pdf (Publisher’s version ) (Closed access) The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 x 10-8; rs191260602, P=3.9 x 10-8). We followed up on this finding in a larger dimensional AC…

0301 basic medicineMaleStartle responseReflex StartleQH301 BiologyGenome-wide association studyGene mutationAnxiety0302 clinical medicineCognitionReceptors GlycineGene FrequencyGermanyGWASHyperekplexiaGeneticsPanic disordermedicine.diagnostic_testStartleBrainFearGLRBAnxiety DisordersPsychiatry and Mental healthSchizophreniaUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Panic DisorderFemalemedicine.symptomPsychologyBDCRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryClinical psychologyAdultGenotypeNDASQH426 Genetics03 medical and health sciencesCellular and Molecular NeuroscienceQH301Fear networkSpastic mousemedicineHumansGenetic Predisposition to DiseaseMolecular BiologyQH426AgoraphobiaAllelesNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Panic disorderOther Research Radboud Institute for Health Sciences [Radboudumc 0]medicine.diseaseStartle reaction030104 developmental biologyMCPCase-Control StudiesMutationRC0321030217 neurology & neurosurgeryAgoraphobiaGenome-Wide Association StudyMolecular psychiatry
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Genome-wide Association Study Identifies Genetic Variants Associated With Early and Sustained Response to (Pegylated) Interferon in Chronic Hepatitis…

2019

Wong, Grace LH/0000-0002-2863-9389; Wong, Vincent WS/0000-0003-2215-9410; Mangia, A/0000-0002-2600-3555; Brahmania, Mayur/0000-0002-4671-1479; Chan, Henry Lik-Yuen/0000-0002-7790-1611; Brouwer, Willem Pieter/0000-0001-8713-1481; Feld, Jordan/0000-0003-2640-2211; Tanwandee, Tawesak/0000-0001-7634-0843; Jaroszewicz, Jerzy/0000-0003-0139-4753; Chuaypen, Natthaya/0000-0002-5415-510X

0301 basic medicineMicrobiology (medical)AdultMaleHBsAgHepatitis B virusSettore MED/09 - Medicina InternaGenotyping TechniquesGenome-wide association studymedicine.disease_causePeripheral blood mononuclear cellAntiviral Agents03 medical and health sciences0302 clinical medicineHepatitis B ChronicSDG 3 - Good Health and Well-beingPegylated interferonInterferonmedicineHumansGWASchronic hepatitis BgeneticsProspective StudiespeginterferonArticles and CommentariesHepatitis B virusresponsebusiness.industryInterleukinInterferon-alphaMiddle Aged3. Good health030104 developmental biologyInfectious DiseasesHBeAgImmunologyMultivariate Analysis030211 gastroenterology & hepatologyFemaleInterferonsbusinessmedicine.drugGenome-Wide Association StudyClinical Infectious Diseases
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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<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
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Genetically elevated gamma-glutamyltransferase and Alzheimer's disease

2018

Observational epidemiological evidence supports a linear and independent association between serum gamma-glutamyltransferase (GGT) concentrations and the risk of Alzheimer's disease (AD). However, the causality of this association has not been previously investigated. We sought to assess the causal nature of this association using a Mendelian randomization (MR) approach. Using inverse-variance weighted MR analysis, we assessed the association between GGT and AD using summary statistics for single nucleotide polymorphism (SNP)-AD associations obtained from the International Genomics of Alzheimer's Project of 17,008 individuals with AD and 37,154 controls. We used 26 SNPs significantly associ…

0301 basic medicineOncologyAgingentsyymitDisease030204 cardiovascular system & hematologyAlzheimerin tautiBiochemistryGWAS genome-wide association studiestransferaasit0302 clinical medicineEndocrinologyEpidemiologyMedicineNHGRI National Human Genome Research InstituteGamma-glutamyltransferasebiologyMR Mendelian randomizationGenetic Pleiotropyta3142SNP single nucleotide polymorphismAlzheimer's disease3. Good healthEuropeAD Alzheimer's diseasegeneettiset tekijätmedicine.medical_specialtySingle-nucleotide polymorphismGRS genetic risk scoreta3111Polymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer DiseaseInternal medicineMendelian randomizationGeneticsMendelian randomizationSNPHumansMolecular Biologybusiness.industryGGT gamma-glutamyltransferaseIGAP International Genomics of Alzheimer's ProjectGenetic VariationGamma-glutamyltransferaseCell BiologyOdds ratioMendelian Randomization AnalysisConfidence intervalCI confidence intervalOR odds ratio030104 developmental biologyCase-Control Studiesbiology.proteinbusinessSD standard deviationGenome-Wide Association StudyExperimental Gerontology
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Short telomere length is associated with impaired cognitive performance in European ancestry cohorts

2017

AbstractThe association between telomere length (TL) dynamics on cognitive performance over the life-course is not well understood. This study meta-analyses observational and causal associations between TL and six cognitive traits, with stratifications on APOE genotype, in a Mendelian Randomization (MR) framework. Twelve European cohorts (N=17 052; mean age=59.2±8.8 years) provided results for associations between qPCR-measured TL (T/S-ratio scale) and general cognitive function, mini-mental state exam (MMSE), processing speed by digit symbol substitution test (DSST), visuospatial functioning, memory and executive functioning (STROOP). In addition, a genetic risk score (GRS) for TL includin…

0301 basic medicineOncologycognitionNetherlands Twin Register (NTR)Psychometricsgenetic associationgenotypepolymerase chain reactionStatistics as TopicNeuropsychological Testsgenetic riskDISEASE3124 Neurology and psychiatryCohort Studies0302 clinical medicinesingle nucleotide polymorphismcognitive defectYOUNG-ADULTSgenetic variabilitytelomere lengthMedicineGWAScognitive performanceta515depth perceptionNetherlandsRISKlearningmedicine.diagnostic_testdigit symbol substitution testquantitative analysisDEMENTIAGenetic Carrier ScreeningadultarticleMini Mental State ExaminationCognitionta3142episodic memoryznf208 geneMiddle AgedTelomereapolipoprotein E4cohort analysisrtel1 genePsychiatry and Mental healthPROCESSING SPEEDacyp2 genefemaleancestry groupMENDELIAN RANDOMIZATIONOriginal ArticleClinical psychologymedicine.medical_specialtytert genePsychometricsMendelian randomization analysisgenetic risk scoreWhite People03 medical and health sciencesCellular and Molecular NeurosciencemaleInternal medicineMendelian randomizationpleiotropyJournal Article/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansCognitive DysfunctionEffects of sleep deprivation on cognitive performancehumangeneBiological PsychiatryMETAANALYSISAgedterc geneStroop testMini–Mental State Examinationgenome-wide association studyIDENTIFICATIONPsykologi (exklusive tillämpad psykologi)business.industryMORTALITYobfc1 genemajor clinical studyConfidence intervalPsychology (excluding Applied Psychology)030104 developmental biologyexecutive functionDigit symbol substitution testnaf1 geneobservational studybusiness030217 neurology & neurosurgeryStroop effect
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Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020

Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loc…

0301 basic medicinegenetic structures610 MedizinGenome-wide association studyMacular Degeneration0302 clinical medicineAdvanced diseaseCD46Genetics (clinical)GeneticsInternational AMD genomics consortium (IAMDGC)ddc:6100303 health sciencesGenome-wide association study (GWAS)3. Good health030220 oncology & carcinogenesisAge-related macular degeneration (AMD)Meta-analysisResearch ArticleGenetic Markerslcsh:Internal medicineUK biobank (UKBB)lcsh:QH426-470Locus (genetics)GenomicsComputational biologyBiologyPolymorphism Single NucleotideGenome-wide association study (GWAS) Meta-analysis Age-related macular degeneration (AMD) Early AMD CD46 TYR International AMD genomics consortium (IAMDGC) UK biobank (UKBB) Machine-learning Automated phenotyping03 medical and health sciencesEarly AMDGeneticsmedicineHumansGenetic Predisposition to DiseaseGenome-wide Association Study (gwas) ; Meta-analysis ; Age-related Macular Degeneration (amd) ; Early Amd ; Cd46 ; Tyr ; International Amd Genomics Consortium (iamdgc) ; Uk Biobank (ukbb) ; Machine-learning ; Automated Phenotypinglcsh:RC31-1245Machine-learning030304 developmental biologyTYRCD46Macular degenerationmedicine.diseaseHuman geneticseye diseasesGenetic architectureMeta-analysislcsh:Genetics030104 developmental biologyGenetic LociCase-Control StudiesAutomated phenotypingHTRA1030221 ophthalmology & optometrysense organsGenome-Wide Association Study
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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
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