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Record W2118225901 · doi:10.1136/jmg.2004.026971

Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

2005· letter· en· W2118225901 on OpenAlexafffund
Hui‐Qi Qu, Tessier Mc, Hudson Tj, Constantin Polychronakos

Bibliographic record

VenueJournal of Medical Genetics · 2005
Typeletter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDiabetes and associated disorders
Canadian institutionsMcGill UniversityMcGill University and Génome Québec Innovation CentreMontreal Children's Hospital
FundersCanadian Institutes of Health ResearchGenome CanadaMcGill UniversityJuvenile Diabetes Research Foundation InternationalBurroughs Wellcome Fund
KeywordsPTPN22BiologyGeneticsPopulation stratificationLinkage disequilibriumSingle-nucleotide polymorphismPopulationHaplotypeProtein tyrosine phosphataseGenetic associationAlleleGeneGenotypeReceptorMedicine

Abstract

fetched live from OpenAlex

enetic susceptibility to the autoimmune B cell destruction that leads to Type 1 diabetes mellitus (T1D) is a complex trait. ottini et al recently found, by a case-control design in two independent populations, a novel association of T1D with a single nucleotide polymorphism (SNP) that caused a R620W aminoacid substitution (dbSNP rs2476601) in the lymphoid protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. 5 PTPN22 encodes LYP, a non-receptor tyrosine phos- phatase involved in lymphocyte function.

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 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)0.001
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.053
Threshold uncertainty score0.394

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.007
GPT teacher head0.225
Teacher spread0.218 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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

Citations65
Published2005
Admission routes2
Has abstractyes

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