A saturated map of common genetic variants associated with human height

Pourquoi ce travail est-il dans la base ?

Une base qui oublie comment elle a trouvé un travail ne peut pas être vérifiée. Voici les voies qui ont admis celui-ci.

Prédiction distillée sur la base complète

Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.

Catégories candidates

aucune

Catégories consensuelles

aucune

Domaine

Signal candidat: aucuneSignal consensuel: aucune

Devis d'étude

Signal candidat: ObservationnelSignal consensuel: Observationnel

Genre

Signal candidat: EmpiriqueSignal consensuel: Empirique

Score de désaccord entre enseignants

0,520

Score d'incertitude au seuil

0,437

Statut de validation

machine_predicted_unvalidated · codex-gemma-dda1882f352a

Scores Codex et Gemma par catégorie

Scores machine (provisoires)

Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.

Écart entre enseignants

0,244 · la distance entre les deux têtes enseignantes sur ce seul travail

Statut de validation

score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découle

Résumé

Abstract Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes 1 . Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel 2 ) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10–20% (14–24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.

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La notice

Revue

Nature

Thématique

Genetic Associations and Epidemiology

Domaine

Biochemistry, Genetics and Molecular Biology

Établissements canadiens

Sinai Health SystemLunenfeld-Tanenbaum Research InstituteUniversity of TorontoDalhousie UniversityMontreal Heart InstituteUniversité de MontréalUniversité Laval

Organismes subventionnaires

Daiichi Sankyo EuropeEuropean Social FundCore Research for Evolutional Science and TechnologyEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentBiosense WebsterNational Center for Advancing Translational SciencesNational Center for Research ResourcesNational Institute of Environmental Health SciencesFogarty International CenterNational Institute of General Medical SciencesNational Cancer InstituteNational Eye InstituteNational Institute on AgingNational Institute on Alcohol Abuse and AlcoholismSchool of Public Health, Imperial College LondonTongji Medical College, Huazhong University of Science and TechnologyBiomedical Research CouncilNational Key Research and Development Program of ChinaHealth and Social Care Research and Development DivisionJapan Society for the Promotion of ScienceCancer Council TasmaniaCancer Council VictoriaMedical Research CouncilCanadian Cancer Society Research InstituteNational Health and Medical Research CouncilCanadian Institutes of Health ResearchWeill Cornell Medicine - QatarNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Mental HealthHelsinki Institute of Life Science, Helsingin YliopistoForsknings- og InnovationsstyrelsenChief Scientist Office, Scottish Government Health and Social Care DirectorateStanley Center for Psychiatric Research, Broad InstitutePerelman School of Medicine, University of PennsylvaniaWeill Cornell Medical CollegeCenters for Disease Control and PreventionTurun YliopistosäätiöMinistry of Cultural AffairsAvera Institute for Human GeneticsDiabetesforeningenHeinz Nixdorf StiftungNational Human Genome Research InstituteMRC-PHE Centre for Environment and HealthMinisterie van Economische Zaken, Landbouw en InnovatieProvincia autonoma di Bolzano - Alto AdigeFreistaat SachsenXarxa de Bancs de Tumors de CatalunyaBusiness FinlandDiabetestutkimussäätiöWageningen University and ResearchH. Lundbeck A/SHjartaverndDanish Agency for Science and Higher EducationInstitut de Cardiologie de MontréalFondation Institut de Cardiologie de MontréalTakeda Pharmaceutical CompanyMedizinische Universität WienFondation du cancer du sein du QuébecServierUniversity of North Carolina at Chapel HillEuropean CommissionTaysSwedish Cancer FoundationStichting BlindenhulpMedizinische Universität GrazEgmont FondenRush UniversityAlexandria UniversityConsejo Nacional de Ciencia y TecnologíaNovo Nordisk FondenUniversity of BristolSafe Work AustraliaWake Forest School of MedicineKarl-Franzens-Universität GrazNational Institute of Diabetes and Digestive and Kidney DiseasesInstituto de Salud Carlos IIIOtsuka PharmaceuticalSchool of Medicine, Boston UniversityYrjö Jahnssonin SäätiöMinisteriet Sundhed ForebyggelseNovo NordiskInstitut National Du CancerChinese Society of Clinical OncologyHelsefondenLastentautien TutkimussäätiöFundación IMSSAugustinus FondenAstellas PharmaInstituto Mexicano del Seguro SocialDeutsche ForschungsgemeinschaftTaichung Veterans General HospitalHelse Midt-NorgeDiabetes UKUniversity College LondonTongji UniversityFaculty of Medicine and Health, University of SydneyOesterreichische NationalbankRegione CampaniaKU LeuvenJuho Vainion SäätiöHjärt-LungfondenBarts and The London School of Medicine and DentistryEmil Aaltosen SäätiöNational Institute on Minority Health and Health DisparitiesNational Research Foundation of KoreaLundbeckfondenElse Kröner-Fresenius-StiftungStanley Medical Research InstituteDepartment of Health, Government of Western AustraliaHuazhong University of Science and TechnologyAccareHjerteforeningenMinistero della SaluteFundación Marqués de ValdecillaAmsterdam University Medical CentersFonds Wetenschappelijk OnderzoekOulun YliopistoUniversität WienNederlandse Zuivel OrganisatieFondation ARC pour la Recherche sur le CancerMinisterie van Volksgezondheid, Welzijn en SportNierstichtingKfH-Stiftung PräventivmedizinMinisterio de Ciencia e InnovaciónGeneralitat de CatalunyaLandelijke Stichting voor Blinden en SlechtziendenTurun Yliopistollinen KeskussairaalaCapital Medical UniversityDeutsche KrebshilfeOffice of the First Minister and Deputy First MinisterAcademia SinicaVrije Universiteit AmsterdamSydäntutkimussäätiöUniversitair Medisch Centrum GroningenUniversiteit van AmsterdamSundhed og Sygdom, Det Frie ForskningsrådUniversity of Notre Dame AustraliaChina-Japan Friendship HospitalTrygFondenEdith Cowan UniversityMcGovern Medical SchoolUniversitätsklinikum RegensburgDanmarks GrundforskningsfondRijksuniversiteit GroningenNational Institute of Nursing ResearchNational Institute for Nutrition and HealthUniversiteit LeidenQueen Mary University of LondonCotswold FoundationNorges ForskningsrådScience Foundation IrelandUnited Kingdom Clinical Research CollaborationStockholms Läns LandstingGlaxoSmithKlineSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungMinistero dell’Istruzione, dell’Università e della RicercaCurtin University of TechnologyMarch of Dimes FoundationEesti TeadusagentuurBritish Heart FoundationCentre for Ageing Research and Development in IrelandUniversiteit UtrechtNorges Teknisk-Naturvitenskapelige UniversitetScottish GovernmentNational Center for Chronic Disease Prevention and Health PromotionCouncil of Scientific and Industrial Research, IndiaCancer AustraliaSamsungProstate Cancer Foundation of AustraliaNederlandse Organisatie voor Wetenschappelijk OnderzoekRosetrees TrustMassachusetts General HospitalOak FoundationScottish Funding CouncilMovember FoundationImperial College LondonNational Research Foundation SingaporeNational Research FoundationAustrian Science FundNational Institute for Health and Care ResearchSkånes universitetssjukhusNational Institutes of HealthNational University of SingaporeCancer Research UKUniversity of Notre DameKompetenznetz VorhofflimmernOogfondsDaiichi-SankyoSteno Diabetes Center CopenhagenAlbert-Ludwigs-Universität FreiburgStiftelsen för Strategisk ForskningJawaharlal Nehru UniversityMoonshot Research and Development ProgramNational Institute of Biomedical InnovationPublic Health AgencyDepartment for the EconomyEuropean Federation of Pharmaceutical Industries and AssociationsRegion HovedstadenCancer Research InstituteU.S. Department of Veterans AffairsNorthShore University HealthSystemMedical Research Council CanadaUniversity of Texas Health Science Center at HoustonEuropean Regional Development FundKarolinska InstitutetVlaamse regeringBroad InstituteAustralian GovernmentZonMwFoundation for Cardiovascular ResearchAlliance de recherche numérique du CanadaWellcome TrustFinska LäkaresällskapetKelaEconomic and Social Research CouncilNational Natural Science Foundation of ChinaKoninklijke Nederlandse Akademie van WetenschappenPancreatic Cancer UKRaine Medical Research FoundationSigne ja Ane Gyllenbergin SäätiöJapan Agency for Medical Research and DevelopmentUniversité de LausanneNational Science FoundationKorea National Institute of HealthCenter for Translational Molecular MedicineNational Center for Global Health and MedicineMurdoch UniversityChildren's Hospital of PhiladelphiaMinistry of Education, Culture, Sports, Science and TechnologyHelsingin ja Uudenmaan SairaanhoitopiiriGenome CanadaNational Medical Research CouncilSuomen KulttuurirahastoGovernment of CanadaStrategiske ForskningsrådBristol-Myers SquibbHelmholtz Zentrum MünchenHelsingin YliopistoProstate Cancer CanadaVictor Chang Cardiac Research InstituteQueen's UniversityAmerican Diabetes AssociationUniversity of California, San FranciscoGovernment of Western AustraliaWomen and Infants Research FoundationNational Institute of Neurological Disorders and StrokePaavo Nurmen SäätiöCancer Council QueenslandOvarian Cancer Research FundAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailFondation de FranceUniversity of PennsylvaniaBundesministerium für Bildung und ForschungEuropean Science FoundationVelux StiftungStiftelsen Kristian Gerhard JebsenQueen's University BelfastDeutsche HerzstiftungTranslational Genomics Research InstituteAtlantic PhilanthropiesLeids Universitair Medisch CentrumCarolina Population Center, University of North Carolina at Chapel HillSanofiDeutsches Zentrum für Herz-KreislaufforschungDepartament d'Universitats, Recerca i Societat de la InformacióU.S. Department of Health and Human ServicesPfizerMitsubishi Tanabe Pharma CorporationAgency for Science, Technology and ResearchKnut och Alice Wallenbergs StiftelseNational Heart, Lung, and Blood InstituteAstraZenecaNational University Health SystemNational Institute on Drug AbuseNational Cancer Research InstituteDiabetesliittoAmgenNational Science CouncilBreast Cancer Research FoundationBoettcher FoundationFoundation for the National Institutes of Health

Mots-clés

GeneticsBiologyEvolutionary biology

Résumé présent dans OpenAlex

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