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Record W2322578512 · doi:10.1038/ncomms11008

Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

2016· review· en· W2322578512 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

VenueNature Communications · 2016
Typereview
Languageen
FieldMedicine
TopicOphthalmology and Visual Impairment Studies
Canadian institutionsCentre for Global Health ResearchSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Eye InstituteJohns Hopkins Bloomberg School of Public HealthSchool of Medicine and Public Health, University of Wisconsin-MadisonMax Planck Instituut voor PsycholinguïstiekNational Institutes of HealthState Key Laboratory of OphthalmologyUniversitätsmedizin der Johannes Gutenberg-Universität MainzMoorfields Eye Hospital NHS Foundation TrustNational Healthcare GroupTaysInstitute of GeneticsTartu ÜlikoolHospital for Sick ChildrenQIMR Berghofer Medical Research InstituteTurun YliopistoCapital Medical UniversityInstitut National de la Santé et de la Recherche MédicaleMenzies Research Institute TasmaniaKing's College LondonHealth Science Center, University of TennesseeNational Institute for Health and Care ResearchErasmus Medisch CentrumHelsingin YliopistoInselspital, Universitätsspital BernMenzies Institute for Medical ResearchUniversity of BristolTurun Yliopistollinen KeskussairaalaSun Yat-sen UniversityCardiff UniversityUniversity of TorontoNational University of SingaporeCase Western Reserve UniversityJohns Hopkins UniversityTampereen YliopistoUniversity of PennsylvaniaMedical Research CouncilGenome Institute of SingaporeWellcome TrustDiamantina Institute, University of QueenslandUniversity of Tasmania
KeywordsGenome-wide association studySingle-nucleotide polymorphismSNPGeneticsBiologyMeta-analysisGenetic associationRefractive errorGeneComputational biologyMedicineGenotypeInternal medicine

Abstract

fetched live from OpenAlex

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10(-5)), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.

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)0.001
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.430
Threshold uncertainty score0.980

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.003
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.261
GPT teacher head0.483
Teacher spread0.222 · 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