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Record W2888894134 · doi:10.1136/bmj.k3225

Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

2018· review· en· W2888894134 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueBMJ · 2018
Typereview
Languageen
FieldMedicine
TopicBone health and osteoporosis research
Canadian institutionsMcGill UniversityJewish General Hospital
FundersNational Center for Advancing Translational SciencesNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Neurological Disorders and StrokeNational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteNational Heart, Lung, and Blood InstituteInstituto de Salud Carlos IIICanadian Institutes of Health ResearchNational Institutes of HealthHjartaverndKulturministerietNovo Nordisk FondenPaavo Nurmen SäätiöMedical Research CouncilServierTartu ÜlikoolGöteborgs LäkaresällskapEesti TeadusagentuurSyddansk UniversitetSydäntutkimussäätiöEmil Aaltosen SäätiöHorizon 2020 Framework ProgrammeVetenskapsrådetNational Institute for Health and Care ResearchJavna Agencija za Raziskovalno Dejavnost RSCentre for Medical Systems BiologyNovo NordiskJuho Vainion SäätiöU.S. Department of Health and Human ServicesSigne ja Ane Gyllenbergin SäätiöVersus ArthritisKempe FoundationHealthwayMinistry of Agriculture, Forestry and FisheriesNational Institute on AgingUniversity of Hong KongSvenska LäkaresällskapetNederlandse Organisatie voor Wetenschappelijk OnderzoekTampereen TuberkuloosisäätiöKelaDivision of Materials ResearchEuropean Regional Development FundKing's College LondonAustralian Cancer Research FoundationAcademy of FinlandHealth Research Council of New ZealandNederlandse Zuivel OrganisatieErasmus Medisch CentrumStiftelsen för Strategisk ForskningGeelong Region Medical Research FoundationNational Science FoundationFondation LeducqNational Health and Medical Research CouncilSuomen KulttuurirahastoJewish General HospitalForskningsrådet för Arbetsliv och SocialvetenskapWellcome TrustWageningen University and ResearchCancer Research UKAmgenSteirische WirtschaftsförderungsgesellschaftWorld Anti-Doping AgencyAustrian Federal Ministry of Economy, Family and YouthYrjö Jahnssonin SäätiöChinese University of Hong KongEli Lilly and CompanyFoundation for Cardiovascular ResearchUmeå UniversitetEuropean CommissionSanofiPfizerNational Center for Research ResourcesDiabetesliittoNational and Kapodistrian University of AthensBundesministerium für Verkehr, Innovation und TechnologieMinisterie van Economische Zaken, Landbouw en InnovatieZonMw
KeywordsGenome-wide association studyMendelian inheritanceGenetic associationAssociation (psychology)MedicineBioinformaticsGeneticsBiologyGenotypeSingle-nucleotide polymorphismPsychologyGene

Abstract

fetched live from OpenAlex

OBJECTIVES: To identify the genetic determinants of fracture risk and assess the role of 15 clinical risk factors on osteoporotic fracture risk. DESIGN: Meta-analysis of genome wide association studies (GWAS) and a two-sample mendelian randomisation approach. SETTING: 25 cohorts from Europe, United States, east Asia, and Australia with genome wide genotyping and fracture data. PARTICIPANTS: A discovery set of 37 857 fracture cases and 227 116 controls; with replication in up to 147 200 fracture cases and 150 085 controls. Fracture cases were defined as individuals (>18 years old) who had fractures at any skeletal site confirmed by medical, radiological, or questionnaire reports. Instrumental variable analyses were performed to estimate effects of 15 selected clinical risk factors for fracture in a two-sample mendelian randomisation framework, using the largest previously published GWAS meta-analysis of each risk factor. RESULTS: ). Hand grip strength was inversely associated with fracture risk, but this result was not significant after multiple testing correction. The remaining clinical risk factors (including vitamin D levels) showed no evidence for an effect on fracture. CONCLUSIONS: This large scale GWAS meta-analysis for fracture identified 15 genetic determinants of fracture, all of which also influenced bone mineral density. Among the clinical risk factors for fracture assessed, only bone mineral density showed a major causal effect on fracture. Genetic predisposition to lower levels of vitamin D and estimated calcium intake from dairy sources were not associated with fracture risk.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.192
Threshold uncertainty score0.348

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.081
GPT teacher head0.491
Teacher spread0.410 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it