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Record W2194135672 · doi:10.3899/jrheum.150710

The Genetic Epidemiological Landscape of Hip and Knee Osteoarthritis: Where Are We Now and Where Are We Going?

2015· review· en· W2194135672 on OpenAlexvenueno aff
Eleni Zengini, Chris Finan, J. Mark Wilkinson

Bibliographic record

VenueThe Journal of Rheumatology · 2015
Typereview
Languageen
FieldMedicine
TopicOsteoarthritis Treatment and Mechanisms
Canadian institutionsnot available
Fundersnot available
KeywordsGenome-wide association studyHeritabilityEpigeneticsGenetic associationPenetranceGenetic architectureDiseaseMedicineGeneticsPhenotypeMissing heritability problemCandidate geneGenetic epidemiologyBiomarkerBioinformaticsComputational biologyBiologyGenotypeGeneGenetic variantsPathologySingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

Osteoarthritis (OA) is a complex disease that affects the whole joint, with multiple biological and environmental factors contributing to its development. The heritable component for primary OA accounts for ∼50% of susceptibility. So far, candidate gene studies and genome-wide association scans have established 18 OA-associated loci. These findings account for 11% of the heritability, explaining a rather small fraction of the genetic component. To further unravel the genetic architecture of OA, the field needs to facilitate more precise phenotypic definitions, high genome coverage, and large sample metaanalyses, expecting the identification of rare and low frequency variants with potentially higher penetrance, and more accurate methods for calculating phenotype-genotype correlation. Expression analysis, epigenetics, and investigation of interactions can also help clarify the implicated transcriptional regulatory pathways and provide insights into further novel pathogenic OA mechanisms leading to diagnostic biomarker identification and new, more focused therapeutic disease approaches.

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.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.001

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 head0.042
GPT teacher head0.307
Teacher spread0.265 · 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

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations47
Published2015
Admission routes1
Has abstractyes

Explore more

Same venueThe Journal of Rheumatology→Same topicOsteoarthritis Treatment and Mechanisms→French-language works237,207→