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Pharmacogenomics of vincristine‐induced neurotoxicity in pediatric cancer patients

2013· article· en· W2891749579 on OpenAlexaff
Ursula Amstutz, Tenneille Loo, Helene M. Gylling, Juliette Hukin, Yassamin Faroz Zada, Marie‐Pierre Dubé, Andrew Brown, Michael Phillips, Michael R. Hayden, Colin J.D. Ross, Bruce Carleton

Bibliographic record

VenueThe FASEB Journal · 2013
Typearticle
Languageen
FieldPharmacology, Toxicology and Pharmaceutics
TopicPharmacogenetics and Drug Metabolism
Canadian institutionsUniversité de MontréalMontreal Heart InstituteBC Children's HospitalUniversity of British Columbia
Fundersnot available
KeywordsMedicineContext (archaeology)CohortOncologyPediatric cancerInternal medicineCancerBioinformaticsBiology

Abstract

fetched live from OpenAlex

The use of the anticancer agent vincristine is limited by debilitating neurotoxicity (VIN), for which a genetic basis has been suggested. Here, we investigated variation in 315 genes involved in drug absorption, metabolism, distribution, excretion (ADME) and toxicity in the context of VIN in children with cancer. We genotyped 4536 ADME variants in a pilot cohort of 140 children with Wilms tumor and rhabdomyosarcoma. To replicate findings, known variants in CYP3A5 and ABCB1 as well as variants with evidence for association (p<0.01) in the pilot cohort were analyzed in 422 patients with acute lymphoblastic leukemia (ALL). No association of variants in CYP3A5 or ABCB1 with VIN was observed. Of the candidates identified in the pilot cohort, the association of a variant in ABCA4 with VIN was replicated in patients with ALL (combined cohort OR: 1.7; P = 2.9×10 −4 ). This study was the first to broadly screen genetic variation in the context of VIN in pediatric cancer patients and serves as a starting point for further study of the genetic basis of VIN, providing novel hypotheses for mechanisms underlying the susceptibility to VIN and the possibility for predictive genetic testing to identify patients at risk. Funded by CIHR/CFI

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.005
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.084
GPT teacher head0.393
Teacher spread0.309 · 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 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

Citations1
Published2013
Admission routes1
Has abstractyes

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