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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Εvangelos Εvangelou, Helen R. Warren, David Mosén-Ansorena, Borbála Mifsud, Raha Pazoki, He Gao, Georgios Ntritsos, Niki Dimou, Claudia P. Cabrera, İbrahim Karaman, Fu Liang Ng, Marina Evangelou, Katarzyna Witkowska, Evan Tzanis, Jacklyn N. Hellwege, Ayush Giri, Digna R. Velez Edwards, Yan V. Sun, Kelly Cho, J. Michael Gaziano, Peter W.F. Wilson, Philip S. Tsao, Csaba P. Kövesdy, Tõnu Esko, Reedik Mägi, Lili Milani, Peter Almgren, Thibaud Boutin, Stéphanie Debette, Jun Ding, Franco Giulianini, Elizabeth Holliday, Anne Jackson, Ruifang Li‐Gao, Wei‐Yu Lin, Jian’an Luan, Massimo Mangino, Christopher Oldmeadow, Bram P. Prins, Yong Qian, Muralidharan Sargurupremraj, Nabi Shah, Praveen Surendran, Sébastien Thériault, Niek Verweij, Sara M. Willems, Jing-Hua Zhao, Philippe Amouyel, John Connell, Renée de Mutsert, Alex S. F. Doney, Martin Farrall, Cristina Menni, Andrew D. Morris, Raymond Noordam, Guillaume Paré, Neil R Poulter, Denis C. Shields, Alice Stanton, Simon Thom, Gonçalo Abecasis, Najaf Amin, Dan E. Arking, Kristin L. Ayers, Caterina Barbieri, Chiara Batini, Joshua C. Bis, Tineka Blake, Murielle Bochud, Michael Boehnke, Eric Boerwinkle, Dorret I. Boomsma, Erwin P. Böttinger, Peter S. Braund, Marco Brumat, Archie Campbell, Harry Campbell, Aravinda Chakravarti, John C. Chambers, Ganesh Chauhan, Marina Ciullo, Massimiliano Cocca, Francis S. Collins, Heather J. Cordell, Gail Davies, Martin H. de Borst, Eco J. C. de Geus, Ian J. Deary, Joris Deelen, Fabiola Del Greco M, Cumhur Yusuf Demirkale, Marcus Dörr, Georg Ehret, Roberto Elosúa, Stefan Enroth, A. Mesut Erzurumluoglu, Teresa Ferreira, Mattias Frånberg, Oscar H. Franco, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Christian Gieger, Giorgia Girotto, Anuj Goel, Alan J. Gow, Vilmundur Guðnason, Xiuqing Guo, Ulf Gyllensten, Anders Hamsten, Tamara B. Harris, Sarah E. Harris, Catharina A. Hartman, Aki S. Havulinna, Andrew A. Hicks, Edith Hofer, Albert Hofman, Jouke‐Jan Hottenga, Jennifer E. Huffman, Shih-Jen Hwang, Erik Ingelsson, Alan James, Rick Jansen, Marjo‐Riitta Järvelin, Roby Joehanes, Åsa Johansson, Andrew D. Johnson, Peter K. Joshi, J. Wouter Jukema, Antti Jula, Mika Kähönen, Sekar Kathiresan, Bernard Keavney, Kay‐Tee Khaw, Paul Knekt, Jo Knight, Ivana Kolčić, Jaspal S. Kooner, Seppo Koskinen, Kati Kristiansson, Zoltán Kutalik, Maris Laan, Marty Larson, Lenore J. Launer, Benjamin Lehne, Terho Lehtimäki, David C. Liewald, Li Lin, Lars Lind, Cecilia M. Lindgren, YongMei Liu, Ruth J. F. Loos, Lorna M. Lopez, Yingchang Lu, Leo‐Pekka Lyytikäinen, Anubha Mahajan, Chrysovalanto Mamasoula, Jaume Marrugat, Jonathan Marten, Yuri Milaneschi, Anna Morgan, Andrew P. Morris, Alanna C. Morrison, Peter J. Munson, Mike A. Nalls, Priyanka Nandakumar, Christopher P. Nelson, Teemu Niiranen, Ilja M. Nolte, Teresa Nutile, Albertine J. Oldehinkel, Ben A. Oostra, Paul F. O’Reilly, Elin Org, Sandosh Padmanabhan, Walter Palmas, Aarno Palotie, Alison Pattie, Brenda W.J.H. Penninx, Markus Perola, Annette Peters, Ozren Polašek, Peter P. Pramstaller, Quang Tri Nguyen, Olli T. Raitakari, Meixia Ren, Rainer Rettig, Kenneth Rice, Paul M. Ridker, Janina S. Ried, Harriëtte Riese, Samuli Ripatti, Antonietta Robino, Lynda M. Rose, Jerome I. Rotter, Igor Rudan, Daniela Ruggiero, Yasaman Saba, Cinzia Sala, Veikko Salomaa, Antti-Pekka Sarin, Reinhold Schmidt, Helena Schmidt, Nick Shrine, David Siscovick, Albert V. Smith, Harold Snieder, Siim Sõber, Rossella Sorice, John M. Starr, David J. Stott, David P. Strachan, Rona J. Strawbridge, Johan Sundström, Morris A. Swertz, Kent D. Taylor, Alexander Teumer, Martin D. Tobin, Maciej Tomaszewski, Daniela Toniolo, Michela Traglia, Stella Trompet, Jaakko Tuomilehto, Christophe Tzourio, André G. Uitterlinden, Ahmad Vaez, Peter J. van der Most, Cornelia M. van Duijn, Anne‐Claire Vergnaud, Germaine C. Verwoert, Véronique Vitart, Uwe Völker, Péter Vollenweider, Dragana Vuckovic, Hugh Watkins, Sarah H. Wild, Gonneke Willemsen, James F. Wilson, Alan F. Wright, Jie Yao, Tatijana Zemunik, Weihua Zhang, John Attia, Adam S. Butterworth, Daniel I. Chasman, David Conen, Francesco Cucca, John Danesh, Caroline Hayward, Joanna M. M. Howson, Markku Laakso, Edward G. Lakatta, Claudia Langenberg, Olle Melander, Dennis O. Mook‐Kanamori, Lorenz Risch, Robert A. Scott, Rodney J. Scott, Peter Sever, Tim D. Spector, Pim van der Harst, Nicholas J. Wareham, Eleftheria Zeggini, Daniel Levy, Patricia B. Munroe, Christopher Newton‐Cheh, Morris J. Brown, Andres Metspalu, Adriana M. Hung, Christopher J. O’Donnell, Todd L. Edwards, Bruce M. Psaty, Ioanna Tzoulaki, Michael R. Barnes, Louise V. Wain, Paul Elliott, Mark J. Caulfield
Bibliographic record
VenueNature Genetics · 2018
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité LavalInstitut universitaire de cardiologie et de pneumologie de QuébecMcMaster University
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteNational Heart, Lung, and Blood InstituteNIHR Cambridge Biomedical Research CentreNIHR Oxford Biomedical Research CentreNIHR Imperial Biomedical Research CentreMedical Research CouncilCanadian Institutes of Health ResearchHorizon 2020 Framework ProgrammeNational Institutes of HealthNational Human Genome Research InstituteUK Dementia Research InstituteNovo Nordisk FondenChina Scholarship CouncilNovo NordiskPublic Health EnglandLi Ka Shing FoundationEuropean CommissionNational Medical Research CouncilKing's College LondonBiotechnology and Biological Sciences Research CouncilWellcome TrustCancer Research UKImperial College Healthcare NHS TrustNetherlands Heart InstituteGlaxoSmithKlineImperial College LondonNational Institute for Health and Care ResearchNational Center for Research ResourcesCisco SystemsAgence Nationale de la RechercheMinistero della SaluteAlzheimer's SocietyUniversité LavalBritish Heart FoundationBrigham and Women's HospitalBritish Lung FoundationNational Institute for Health Research Health Protection Research UnitEU Joint Programme – Neurodegenerative Disease ResearchEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentZonMwU.S. Department of Veterans AffairsEconomic and Social Research CouncilU.S. Department of Health and Human Services
KeywordsBlood pressureBiologyGenome-wide association studyGenetic architectureQuantitative trait locusDiseasePulse pressureGeneticsRisk factorInternal medicineSingle-nucleotide polymorphismGenotypeGeneMedicineEndocrinology
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)0.002
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: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.003
Threshold uncertainty score0.009
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 head0.013
GPT teacher head0.291
Teacher spread0.279 · 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
Citations1,500
Published2018
Admission routes2
Has abstractno