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Record W2147615363 · doi:10.1093/hmg/dds334

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

2012· review· en· W2147615363 on OpenAlexafffund
Maria Timofeeva, Þórunn Rafnar, David C. Christiani, John K. Field, Heike Bickeböller, Angela Risch, James McKay, Yufei Wang, Juncheng Dai, Valérie Gaborieau, Darren R. Brenner, Steven A. Narod, Neil E. Caporaso, Demetrius Albanes, Michael J. Thun, Timothy Eisen, H.‐Erich Wichmann, Albert Rosenberger, Younghun Han, Wei Chen, Dakai Zhu, Margaret R. Spitz, Xifeng Wu, Mala Pande, Yang Zhao, Давид Заридзе, Neonilia Szeszenia‐Dabrowska, Jolanta Lissowska, Péter Rudnai, Eleonóra Fabiánová, Dana Mateș, Vladimír Bencko, Lenka Foretová, Vladimí­r Janout, Hans E. Krokan, Maiken E. Gabrielsen, Frank Skorpen, Lars J. Vatten, Inger Njølstad, Chu Chen, Gary E. Goodman, Mark Lathrop, Simone Benhamou, Tõnu Vooder, Kristjan Välk, Mari Nelis, Andres Metspalu, Olaide Y. Raji, Ying Chen, John R. Gosney, Triantafillos Liloglou, Thomas Muley, Hendrik Dienemann, Guðmar Þorleifsson, Hongbing Shen, Kāri Stefánsson, Paul Brennan, Christopher I. Amos, Richard S. Houlston, Maria Teresa Landi

Bibliographic record

VenueHuman Molecular Genetics · 2012
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA modifications and cancer
Canadian institutionsWomen's College HospitalLunenfeld-Tanenbaum Research Institute
FundersFP7 Research Potential of Convergence RegionsNational Cancer InstituteNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteNational High-tech Research and Development ProgramEuropean Regional Development FundUniversity of Texas MD Anderson Cancer CenterU.S. Public Health ServiceNational Institutes of HealthSynchrotron Light Research InstituteInstitut National Du CancerTartu ÜlikoolCanadian Cancer Society Research InstituteDeutsche ForschungsgemeinschaftDeutscher Akademischer AustauschdienstCancer Care OntarioCancer Prevention and Research Institute of TexasNorges ForskningsrådWellcome TrustCancer Research UKHenry Ford Health SystemAmerican Cancer SocietyGeorgetown UniversityUniversity of Colorado DenverDeutsche KrebshilfeNational Natural Science Foundation of ChinaUniversity of PittsburghJohns Hopkins UniversityBundesamt für StrahlenschutzSanofiRoy Castle Lung Cancer FoundationUniversity of California, Los AngelesUniversity of Minnesota
KeywordsBiologyLung cancerCDKN2AGenome-wide association studyLung cancer susceptibilityGeneticsp14arfGenetic associationCancerOncologyCarcinogenesisSingle-nucleotide polymorphismGeneGenotypeMedicineTumor suppressor gene

Abstract

fetched live from OpenAlex

Recent genome-wide association studies (GWASs) have identified common genetic variants at 5p15.33, 6p21-6p22 and 15q25.1 associated with lung cancer risk. Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) and RAD52 (12p13) have been demonstrated to influence lung cancer risk in candidate- or pathway-based analyses. To identify novel risk variants for lung cancer, we performed a meta-analysis of 16 GWASs, totaling 14 900 cases and 29 485 controls of European descent. Our data provided increased support for previously identified risk loci at 5p15 (P = 7.2 × 10(-16)), 6p21 (P = 2.3 × 10(-14)) and 15q25 (P = 2.2 × 10(-63)). Furthermore, we demonstrated histology-specific effects for 5p15, 6p21 and 12p13 loci but not for the 15q25 region. Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL; rs1333040, P = 3.0 × 10(-7)) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10(-8)). This large analysis provides additional evidence for the role of inherited genetic susceptibility to lung cancer and insight into biological differences in the development of the different histological types of lung cancer.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.290
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.060
GPT teacher head0.364
Teacher spread0.304 · 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 designMeta-analysis
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

Citations240
Published2012
Admission routes2
Has abstractyes

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