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Defining the role of common variation in the genomic and biological architecture of adult human height.
Andrew R. Wood, Tõnu Esko, Jian Yang, Sailaja Vedantam, Tune H. Pers, Stefan Gustafsson, Audrey Y. Chun, Karol Estrada, Jian’an Luan, Zoltán Kutalik, Najaf Amin, Martin L. Buchkovich, Damien C. Croteau‐Chonka, Felix R. Day, Yanan Duan, Tove Fall, Rudolf S.N. Fehrmann, Teresa Ferreira, Anne Jackson, Juha Karjalainen, Ken Sin Lo, Adam E. Locke, Reedik Maegi, Evelin Mihailov, Eleonora Porcu, Joshua C. Randall, André Scherag, Anna A. E. Vinkhuyzen, Harm-Jan Westra, Thomas W. Winkler, Tsegaselassie Workalemahu, Jing Hua Zhao, Devin Absher, Eva Albrecht, Denise Anderson, Jeffrey Baron, Marian Beekman, Ayşe Demirkan, Georg Ehret, Bjarke Feenstra, Mary F. Feitosa, Krista Fischer, Ross M. Fraser, Anuj Goel, Jian Gong, Anne E. Justice, Stavroula Kanoni, Marcus E. Kleber, Kati Kristiansson, Unhee Lim, Vaneet Lotay, Julian C. Lui, Massimo Mangino, Irene Mateo Leach, Carolina Medina‐Gómez, Michael A. Nalls, Dale R. Nyholt, Dorota Pasko, Sonali Pechlivanis, Inga Prokopenko, Janina S. Ried, Stephan Ripke, Dmitry Shungin, Alena Stančáková, Rona J. Strawbridge, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sander W. van der Laan, Jessica van Setten, Jana V. van Vliet‐Ostaptchouk, Loïc Yengo, Weihua Zhang, Uzma Afzal, Johan Arnloev, Gillian M. Arscott, Stefania Bandinelli, Amy Barrett, Claire Bellis, Amanda J. Bennett, Christian Berne, Matthias Blueher, Jennifer L. Bolton, Yvonne Boettcher, Heather A. Boyd, Marcel Bruinenberg, Brendan M. Buckley, Steven Buyske, Ida Henriette Caspersen, Peter S. Chines, Robert Clarke, Matthew N. Cooper, E. Warwick Daw, Pim A. de Jong, Joris Deelen, Graciela Delgado, Joshua C. Denny, R.A.M. Dhonukshe-Rutten, Maria Dimitriou, Alex S. F. Doney, Marcus Döerr, Niina Eklund, Elodie Eury, Lasse Folkersen, Melissa E. Garcia, Frank Geller, Vilmantas Giedraitis, Alan S. Go, Harald Grallert, Tanja B. Grammer, Henrik Groenberg, Lisette C. P. G. M. de Groot, Christopher J. Groves, Jeffrey Haessler, Per Hall, Toomas Haller, Göran Hallmans, Anke Hannemann, Catharina A. Hartman, Maija Hassinen, Caroline Hayward, Nancy L. Heard‐Costa, Quinta Helmer, Gibran Hemani, Anjali K. Henders, Hans L. Hillege, Mark A. Hlatky, Wolfgang Hoffmann, Per Hoffmann, Oddgeir L. Holmen, Jeanine J. Houwing‐Duistermaat, Thomas Illig, Aaron Isaacs, Janina M. Jeff, Åsa Johansson, Jennifer Jolley, Thorhildur Juliusdottir, Juhani Junttila, Abel Kho, Leena Kinnunen, Norman Klopp, Thomas D. Kocher, Wolfgang Kratzer, Peter Lichtner, Lars Lind, Jaana Lindstroem, Stéphane Lobbens, Mattias Lorentzon, Yingchang Lu, Valeriya Lyssenko, Patrik K. E. Magnusson, Anubha Mahajan, Marc Maillard, Wendy L. McArdle, Colin A. McKenzie, Stela McLachlan, Paul J. McLaren, Cristina Menni, Sigrun Merger, Lili Milani, Alireza Moayyeri, Keri L. Monda, Mario A. Morken, Gabriele Mueller, Martina Müller‐Nurasyid, Arthur W. Musk, Narisu Narisu, Matthias Nauck, Ilja M. Nolte, Markus M. Nöethen, Laticia Oozageer, Stefan Pilz, Nigel W. Rayner, Frida Renström, Neil R. Robertson, Lynda M. Rose, Ronan Roussel, Serena Sanna, Hubert Scharnagl, Salome Scholtens, Fredrick R. Schumacher, Heribert Schunkert, Robert A. Scott, Joban Sehmi, Thomas Seufferlein, Jianxin Shin, Karri Silventoinen, Johannes H. Smit, Albert V. Smith, Joanna Smolonska, Alice Stanton, Kathleen Stirrups, David J. Stott, Heather M. Stringham, Johan Sundström, Morris A. Swertz, Ann‐Christine Syvänen, Bamidele O. Tayo, Guðmar Þorleifsson, Jonathan P. Tyrer, Suzanne van Dijk, Natasja M. van Schoor, Nathalie van der Velde, Floor V. A. van Oort, Sita H. Vermeulen, Niek Verweij, Judith M. Vonk, Lindsay L. Waite, Mélanie Waldenberger, Roman Wennauer, Lynne R. Wilkens, Christina Willenborg, Tom Wilsgaard, Mary K. Wojczynski, Andrew Wong, Alan F. Wright, Qunyuan Zhang, Dominique Arveiler, Stephan J. L. Bakker, John Beilby, Richard N. Bergman, Sven Bergmann, Reiner Biffar, John Blangero, Dorret I. Boomsma, Stefan R. Bornstein, Pascal Bovet, Paolo Brambilla, Harry Campbell, Mark J. Caulfield, Aravinda Chakravarti, Rory Collins, Francis S. Collins, Dana C. Crawford, L. Adrienne Cupples, John Danesh, Ulf dé Fairé, Hester M. den Ruijter, Raimund Erbel, Jeanette Erdmann, Johan G. Eriksson, Martin Farrall, Ele Ferrannini, Jean Ferrières, Ian Ford, Nita G. Forouhi, Terrence Forrester, Ron T. Gansevoort, Pablo V. Gejman, Christian Gieger, Alain Golay, Omri Gottesman, Vilmundur Guðnason, Ulf Gyllensten, David W. Haas, Alistair S. Hall, Tamara B. Harris, Andrew T. Hattersley, Andrew C. Heath, Christian Hengstenberg, Andrew A. Hicks, Lucia A. Hindorff, Aroon D. Hingorani, Albert Hofman, G. Kees Hovingh, Steve E. Humphries, Steven C. Hunt, Elina Hyppönen, Kevin B. Jacobs, Marjo‐Riitta Järvelin, Pekka Jousilahti, Antti Jula, Jaakko Kaprio, John J.P. Kastelein, Manfred Kayser, Frank Kee, Sirkka Keinänen‐Kiukaanniemi, Lambertus A. Kiemeney, Jaspal S. Kooner, Charles Kooperberg, Seppo Koskinen, Péter Kovács, Aldi T. Kraja, Meena Kumari, Johanna Kuusisto, Timo A. Lakka, Claudia Langenberg, Loı̈c Le Marchand, Terho Lehtimäki, Sara Lupoli, Pamela A. F. Madden, Satu Männistö, Paolo Manunta, André Marette, Tara C. Matise, Barbara McKnight, Thomas Meitinger, Frans L. Moll, Grant W. Montgomery, Andrew D. Morris, Andrew P. Morris, Jeffrey C. Murray, Mari Nelis, Claes Ohlsson, Albertine J. Oldehinkel, Ken K. Ong, Willem H. Ouwehand, Gerard Pasterkamp, Annette Peters, Peter P. Pramstaller, Jackie F. Price, Lu Qi, Olli T. Raitakari, Tuomo Rankinen, D. C. Rao, Treva Rice, Marylyn D. Ritchie, Igor Rudan, Veikko Salomaa, Nilesh J. Samani, Jouko Saramies, Mark A. Sarzynski, Peter E. H. Schwarz, Sylvain Sebért, Peter Sever, Alan R. Shuldiner, Juha Sinisalo, Valgerður Steinthórsdóttir, Ronald P. Stolk, Jean‐Claude Tardif, Anke Toenjes, Angelo Tremblay, Elena Tremoli, Jarmo Virtamo, Marie‐Claude Vohl, Philippe Amouyel, Folkert W. Asselbergs, Themistocles L. Assimes, Murielle Bochud, Bernhard O. Boehm, Eric Boerwinkle, Erwin P. Böttinger, Claude Bouchard, Stéphane Cauchi, John C. Chambers, Stephen J. Chanock, Paul I. W. de Bakker, George Dedoussis, Luigi Ferrucci, Paul W. Franks, Philippe Froguel, Leif Groop, Christopher A. Haiman, Anders Hamsten, M. Geoffrey Hayes, Jennie Hui, David J. Hunter, Kristian Hveem, J. Wouter Jukema, Robert C. Kaplan, Mika Kivimäki, Diana Kuh, Markku Laakso, Ching‐Ti Liu, Nicholas G. Martin, Mads Melbye, Susanne Moebus, Patricia B. Munroe, Ben A. Oostra, Nancy L. Pedersen, Markus Perola, Louis Përusse, Ulrike Peters, Joseph E. Powell, Chris Power, Thomas Quertermous, Rainer Rauramaa, Eva Reinmaa, Paul M. Ridker, Fernando Rivadeneira, Jerome I. Rotter, Timo Saaristo, Danish Saleheen, David Schlessinger, P. Eline Slagboom, Harold Snieder, Tim D. Spector, Konstantin Strauch, Michael Stümvoll, J Tuomilehto, Matti Uusitupa, Pim van der Harst, Mark Walker, Nicholas J. Wareham, Hugh Watkins, H-Erich Wichmann, James F. Wilson, Pieter Zanen, Panos Deloukas, Iris M. Heid, Cecilia M. Lindgren, Karen L. Mohlke, Elizabeth K. Speliotes, Unnur Þorsteinsdóttir, Inês Barroso, Caroline S. Fox, Kari E. North, David P. Strachan, J. Beckmann, Sonja I. Berndt, Michael Boehnke, Ingrid B. Borecki, Mark I. McCarthy, Andres Metspalu, Kāri Stefánsson, André G. Uitterlinden, Cornelia M. van Duijn, Lude Franke, Cristen J. Willer, Alkes L. Price, Guillaume Lettre, Ruth J. F. Loos, Michael N. Weedon, Erik Ingelsson, Jeffrey R. O’Connell, Gonçalo R. Abecasis, Daniel I. Chasman
Bibliographic record
VenuePubMed · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics, Aging, and Longevity in Model Organisms
Canadian institutionsInstitut universitaire de cardiologie et de pneumologie de QuébecUniversité LavalMontreal Heart Institute
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentWellcome TrustNational Human Genome Research InstituteNational Center for Advancing Translational SciencesNational Institute for Health and Care ResearchNational Institute of General Medical SciencesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteNovo Nordisk FondenBritish Heart FoundationNational Cancer InstituteMinisterio de Economía y Competitividad
KeywordsVariation (astronomy)ArchitectureBiologyComputer scienceEvolutionary biologyGeography
Abstract
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
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 imitationNot 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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.692
Threshold uncertainty score0.155
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 head0.006
GPT teacher head0.192
Teacher spread0.186 · 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 teacher head, 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
Citations140
Published2014
Admission routes1
Has abstractyes