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Record W4300305966 · doi:10.17615/b1wk-hz56

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

2020· article· en· W4300305966 on OpenAlexfundno aff
Robert S. Sandler, Suminori Kono, Polly A. Newcomb, Lenora W. M. Loo, Stephen J. Chanock, Bette J. Caan, Andrew T. Chan, Stéphane Bezieau, Brian E. Henderson, Sonja I. Berndt, Hermann Brenner, Laurence N. Kolonel, Christopher S. Carlson, Dee W. West, Mala Pande, Lynne R. Wilkens, Jenny Chang‐Claude, Lisa B. Signorello, Hansong Wang, Graham Casey, John A. Baron, Terrilea Burnett, David Van Den Berg, Christopher I. Amos, Temitope O. Keku, Christopher A. Haiman, William J. Blot, Li Hsu, Brent W. Zanke, Motoki Iwasaki

Bibliographic record

VenueUNC Libraries · 2020
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsnot available
FundersNational Cancer InstituteOntario Ministry of Research and InnovationCanadian Institutes of Health ResearchCenter for Clinical and Translational Sciences, University of Texas Health Science Center at HoustonNational Heart, Lung, and Blood InstituteUniversity of Texas MD Anderson Cancer CenterCenters for Disease Control and PreventionCanadian Cancer Society Research InstituteNational Institutes of HealthBundesministerium für Bildung und ForschungMinistry of Education, Culture, Sports, Science and TechnologyUniversity of Texas Health Science Center at HoustonU.S. Department of DefenseBroad InstituteJohns Hopkins UniversityDuncan Family Institute for Cancer Prevention and Risk AssessmentDivision of Cancer Prevention, National Cancer InstituteVirginia Department of HealthUniversity of Southern CaliforniaDeutsche ForschungsgemeinschaftState of Connecticut Department of Public HealthMinisterio de Economía y CompetitividadUniversity of Hawai'i
KeywordsLocus (genetics)Colorectal cancerEthnic groupGeneticsGenome-wide association studyBiologyGeneSingle-nucleotide polymorphismCancerGenotypeAnthropologySociology

Abstract

fetched live from OpenAlex

The genetic basis of sporadic colorectal cancer (CRC) is not well explained by known risk polymorphisms. Here we perform a meta-analysis of two genome-wide association studies in 2,627 cases and 3,797 controls of Japanese ancestry and 1,894 cases and 4,703 controls of African ancestry, to identify genetic variants that contribute to CRC susceptibility. We replicate genome-wide statistically significant associations (P < 5×10−8) in 16,823 cases and 18,211 controls of European ancestry. This study reveals a new pan-ethnic CRC risk locus at 10q25 (rs12241008, intronic to VTI1A; P=1.4×10−9), providing additional insight into the etiology of CRC and highlighting the value of association mapping in diverse populations.

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)0.003
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 score0.008
Threshold uncertainty score0.016

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.002
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.039
GPT teacher head0.283
Teacher spread0.244 · 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
Published2020
Admission routes1
Has abstractyes

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