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Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
John C. Chambers, Weihua Zhang, Joban Sehmi, Man Li, Mark N. Wass, Pim van der Harst, Hilma Hólm, Serena Sanna, Maryam Kavousi, Sebastian E. Baumeister, Lachlan Coin, Guohong Deng, Christian Gieger, Nancy L. Heard‐Costa, Jouke‐Jan Hottenga, Brigitte Kühnel, Vinod Kumar, Vasiliki Lagou, Liming Liang, Jian'an Luan, Pedro Marques‐Vidal, Irene Mateo Leach, Paul F. O’Reilly, John F. Peden, Nilüfer Rahmioğlu, Pasi Soininen, Elizabeth K. Speliotes, Xin Yuan, Guðmar Þorleifsson, Behrooz Z. Alizadeh, Larry D. Atwood, Ingrid B. Borecki, Pimphen Charoen, Francesco Cucca, Debashish Das, Eco J. C. de Geus, Anna Dixon, Angela Döring, Georg Ehret, Guðmundur I. Eyjólfsson, Martin Farrall, Nita G. Forouhi, Nele Friedrich, Wolfram Goessling, Daníel F. Guðbjartsson, Tamara B. Harris, Anna‐Liisa Hartikainen, Simon Heath, Gideon M. Hirschfield, Albert Hofman, Georg Homuth, Elina Hyppönen, Harry L.A. Janssen, Toby Johnson, Antti J. Kangas, Ido P. Kema, Jens‐Peter Kühn, Sandra Lai, Mark Lathrop, Markus M. Lerch, Yun Li, T. Jake Liang, Jing‐Ping Lin, Ruth J. F. Loos, Nicholas G. Martin, Miriam F. Moffatt, Grant W. Montgomery, Patricia B. Munroe, Yusuke Nakamura, Christopher J. O’Donnell, Isleifur Olafsson, Brenda W.J.H. Penninx, Anneli Pouta, Bram P. Prins, Inga Prokopenko, Ralf Puls, Aimo Ruokonen, Markku J. Savolainen, David Schlessinger, Jeoffrey Schouten, Udo Seedorf, Srijita Sen‐Chowdhry, Katherine A. Siminovitch, Johannes H. Smit, Timothy D Spector, Wenting Tan, Tanya M. Teslovich, Taru Tukiainen, André G. Uitterlinden, Melanie M. van der Klauw, Ramachandran S. Vasan, Chris Wallace, Henri Wallaschofski, H‐Erich Wichmann, Gonneke Willemsen, Peter Würtz, Chun Xu, Laura M. Yerges‐Armstrong, Gonçalo R. Abecasis, Kourosh R. Ahmadi, Mark J. Caulfield, William Cookson, Cornelia M. van Duijn, Philippe Froguel, Koichi Matsuda, Mark I. McCarthy, Christa Meisinger, Vincent Mooser, Kirsi H. Pietiläinen, Günter Schumann, Harold Snieder, Michael J.E. Sternberg, Ronald P. Stolk, Howard C. Thomas, Unnur Þorsteinsdóttir, Manuela Uda, Gérard Waeber, Nicholas J. Wareham, Dawn Waterworth, Hugh Watkins, John B. Whitfield, Jacqueline C.M. Witteman, Bruce H. R. Wolffenbuttel, Caroline S. Fox, Mika Ala‐Korpela, Kāri Stefánsson, Péter Vollenweider, Henry Völzke, Eric E. Schadt, James Scott, Marjo‐Riitta Järvelin, Paul Elliott, Jaspal S. Kooner
Bibliographic record
VenueNature Genetics · 2011
Typearticle
Languageen
FieldMedicine
TopicLiver Disease Diagnosis and Treatment
Canadian institutionsToronto General HospitalLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalToronto Western HospitalUniversity of Toronto
FundersNational Heart, Lung, and Blood InstituteNational Institute on Alcohol Abuse and AlcoholismNational Institute of Diabetes and Digestive and Kidney DiseasesBiocenter, University of OuluHelmholtz Zentrum MünchenJenny ja Antti Wihurin RahastoMedical Research CouncilNational Institutes of HealthNovo Nordisk FondenInstrumentariumin TiedesäätiöUniversitair Medisch Centrum GroningenVetenskapsrådetNational Institute of Mental HealthStockholms Läns LandstingKarolinska InstitutetNovo NordiskHjärt-LungfondenBiomedicum Helsinki-säätiöDiabetes FondsRijksuniversiteit GroningenOulun YliopistoTorsten Söderbergs StiftelseSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungEuropean Science FoundationSchool of Medicine, Boston UniversityEuropean CommissionBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchBritish Heart FoundationCancer Research UKImperial College Healthcare NHS TrustWellcome TrustErasmus Medisch CentrumDirectorate for Biological SciencesImperial College LondonGlaxoSmithKlineNational Science FoundationKnut och Alice Wallenbergs StiftelseNierstichtingYrjö Jahnssonin SäätiöAstraZeneca
KeywordsBiologyCandidate geneGenome-wide association studyGeneticsGeneGenetic associationKEGGSingle-nucleotide polymorphismTranscriptomeGene expressionGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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)0.002
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 score0.003
Threshold uncertainty score0.007
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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 head0.017
GPT teacher head0.260
Teacher spread0.243 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine 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
Citations595
Published2011
Admission routes1
Has abstractno