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Record W2612200829 · doi:10.1038/ncomms15724

Genome-wide association study identifies multiple risk loci for renal cell carcinoma

2017· review· en· W2612200829 on OpenAlexaff
Ghislaine Scélo, Mark P. Purdue, Kevin M. Brown, Mattias Johansson, Zhaoming Wang, Jeanette E. Eckel‐Passow, Yuanqing Ye, Jonathan N. Hofmann, Jiyeon Choi, Matthieu Foll, Valérie Gaborieau, Mitchell J. Machiela, Leandro M. Colli, Peng Li, Joshua N. Sampson, Behnoush Abedi‐Ardekani, Céline Besse, Hélène Blanché, Anne Boland, Laurie Burdette, Amélie Chabrier, Geoffroy Durand, Florence Le Calvez‐Kelm, Egor Prokhortchouk, Nivonirina Robinot, K. G. Skryabin, Magdalena B. Wozniak, Meredith Yeager, Gordana Basta-Jovanović, Zoran Džamić, Lenka Foretová, Ivana Holcátová, Vladimí­r Janout, Dana Mateș, Anush Mukeriya, Ștefan Rașcu, Давид Заридзе, Vladimír Bencko, Cezary Cybulski, Eleonóra Fabiánová, Viorel Jinga, Jolanta Lissowska, Jan Lubiński, Marie Navratilova, Péter Rudnai, Neonila Szeszenia‐Dąbrowska, Simone Benhamou, Géraldine Cancel‐Tassin, Olivier Cussenot, Laura Baglietto, Heiner Boeing, Kay‐Tee Khaw, Elisabete Weiderpass, Börje Ljungberg, Raviprakash T. Sitaram, Fiona Bruinsma, Susan J. Jordan, Gianluca Severi, Ingrid Winship, Kristian Hveem, Lars J. Vatten, Tony Fletcher, Kvetoslava Koppová, Susanna C. Larsson, Alicja Wolk, Rosamonde E. Banks, Peter J. Selby, Douglas F. Easton, Paul D.P. Pharoah, Gabriella Andreotti, Laura E. Beane Freeman, Stella Koutros, Demetrius Albanes, Satu Männistö, Stephanie J. Weinstein, Peter E. Clark, Todd L. Edwards, Loren Lipworth, Susan M. Gapstur, Victoria L. Stevens, Hallie Carol, Matthew L. Freedman, Mark M. Pomerantz, Eunyoung Cho, Peter Kraft, Mark A. Preston, Kathryn M. Wilson, J. Michael Gaziano, Howard D. Sesso, Amanda Black, Neal D. Freedman, Wen‐Yi Huang, John Anema, Richard J. Kahnoski, Brian R. Lane, Sabrina L. Noyes, David Petillo, Bin Tean Teh, Ulrike Peters, Emily White, Garnet L. Anderson, Lisa Johnson, Juhua Luo, Julie E. Buring, I‐Min Lee, Wong‐Ho Chow, Lee E. Moore, Christopher G. Wood, Timothy Eisen, Marc Henrion, James Larkin, Poulami Barman, Bradley C. Leibovich, Toni K. Choueiri, G.M. Lathrop, Nathaniel Rothman, Jean‐François Deleuze, James McKay, Alexander S. Parker, Xifeng Wu, Richard S. Houlston, Paul Brennan, Stephen J. Chanock

Bibliographic record

VenueNature Communications · 2017
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsMcGill University and Génome Québec Innovation Centre
FundersMedical Research CouncilNational Institute for Health and Care ResearchNational Cancer InstituteCancer Research UKNational Institutes of HealthFrancis Crick InstituteWorld Health Organization
KeywordsGenome-wide association studyRenal cell carcinomaBiologyGeneticsGenetic associationExpression quantitative trait lociQuantitative trait locusClear cell renal cell carcinomaGenomeGeneOncologySingle-nucleotide polymorphismMedicineGenotype

Abstract

fetched live from OpenAlex

Abstract Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P =3.1 × 10 −10 ), 3p22.1 (rs67311347, P =2.5 × 10 −8 ), 3q26.2 (rs10936602, P =8.8 × 10 −9 ), 8p21.3 (rs2241261, P =5.8 × 10 −9 ), 10q24.33-q25.1 (rs11813268, P =3.9 × 10 −8 ), 11q22.3 (rs74911261, P =2.1 × 10 −10 ) and 14q24.2 (rs4903064, P =2.2 × 10 −24 ). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

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)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.960
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0020.001
Research integrity0.0010.001
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 head0.056
GPT teacher head0.369
Teacher spread0.313 · 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.

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

Citations140
Published2017
Admission routes1
Has abstractyes

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