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Record W2346626662 · doi:10.1038/nature17671

Genome-wide association study identifies 74 loci associated with educational attainment

2016· article· en· W2346626662 on OpenAlexaff
Aysu Okbay, Jonathan Beauchamp, Mark Alan Fontana, James J. Lee, Tune H. Pers, Cornelius A. Rietveld, Patrick Turley, Guo‐Bo Chen, Valur Emilsson, S. Fleur W. Meddens, Sven Oskarsson, Joseph K. Pickrell, Kevin Thom, Pascal Timshel, Ronald de Vlaming, Abdel Abdellaoui, Tarunveer S. Ahluwalia, Jonas Bačelis, Clemens Baumbach, Gyða Björnsdóttir, J Brandsma, Maria Pina Concas, Jaime Derringer, Nicholas A. Furlotte, Tessel E. Galesloot, Giorgia Girotto, Richa Gupta, Leanne M. Hall, Sarah E. Harris, Edith Hofer, Momoko Horikoshi, Jennifer E. Huffman, Kadri Kaasik, Ioanna Panagiota Kalafati, Robert Karlsson, Augustine Kong, Jari Lahti, Sven J. van der Lee, C. deLeeuw, Penelope A. Lind, Karl‐Oskar Lindgren, Tian Liu, Massimo Mangino, Jonathan Marten, Evelin Mihailov, Michael B. Miller, Peter J. van der Most, Christopher Oldmeadow, Antony Payton, Natalia Pervjakova, Wouter J. Peyrot, Yong Qian, Olli Raitakari, Rico Rueedi, Erika Salvi, Börge Schmidt, Katharina E. Schraut, Jianxin Shi, Albert V. Smith, Raymond A. Poot, Beaté St Pourcain, Alexander Teumer, Gudmar Thorleifsson, Niek Verweij, Dragana Vuckovic, Juergen Wellmann, Harm-Jan Westra, Jingyun Yang, Wei Zhao, Zhihong Zhu, Behrooz Z. Alizadeh, Najaf Amin, Andrew Bakshi, Sebastian E. Baumeister, Ginevra Biino, Klaus Bønnelykke, Patricia A. Boyle, Harry Campbell, Francesco P. Cappuccio, Gail Davies, Jan-Emmanuel De Neve, Panos Deloukas, Ilja Demuth, Jun Ding, Peter Eibich, Lewin Eisele, Niina Eklund, David M. Evans, Jessica D. Faul, Mary F. Feitosa, Andreas J. Forstner, Ilaria Gandin, Bjarni Gunnarsson, Bjarni V. Halldórsson, Tamara B. Harris, Andrew C. Heath, Lynne J. Hocking, Elizabeth G. Holliday, Georg Homuth, Michael A. Horan, Jouke-Jan Hottenga, Philip L De Jager, Peter K. Joshi, Astanand Jugessur, Marika A. Kaakinen, Mika Kähönen, Stavroula Kanoni, Liisa Keltigangas-Järvinen, Lambertus A. Kiemeney, Ivana Kolčić, Seppo Koskinen, Aldi T. Kraja, Martin Kroh, Zoltán Kutalik, Antti Latvala, L. J. Launer, Maël P. Lebreton, Douglas F. Levinson, Paul Lichtenstein, Peter Lichtner, David C. Liewald, Lifelines Cohort Study, Anu Loukola, Pamela A. Madden, Reedik Mägi, Tomi Mäki‐Opas, Riccardo E. Marioni, Pedro Marques‐Vidal, Gerardus A. Meddens, George McMahon, Christa Meisinger, Thomas Meitinger, Yusplitri Milaneschi, Lili Milani, Grant W. Montgomery, Ronny Myhre, Christopher P. Nelson, Dale R. Nyholt, William E. R. Ollier, Aarno Palotie, Lavinia Paternoster, Nancy L. Pedersen, Katja Petrovic, David J. Porteous, Katri Räikkönen, Susan M. Ring, Antonietta Robino, Olga Rostapshova, Igor Rudan, Aldo Rustichini, Veikko Salomaa, Alan R. Sanders, Antti‐Pekka Sarin, Helena Schmidt, Rodney J. Scott, Blair H. Smith, Jennifer A. Smith, Jan A. Staessen, Elisabeth Steinhagen–Thiessen, Konstantin Strauch, Antonio Terracciano, Martin D. Tobin, Sheila Ulivi, Simona Vaccargiu, Lydia Quaye, Frank J.A. van Rooij, Cristina Venturini, Anna A. E. Vinkhuyzen, Uwe Völker, Henry Völzke, Judith M. Vonk, Diego Vozzi, Johannes Waage, Erin B. Ware, Gonneke Willemsen, John Attia, David A. Bennett, Klaus Berger, Lars Bertram, Hans Bisgaard, Dorret I. Boomsma, Ingrid B. Borecki, Ute Bültmann, Christopher F. Chabris, Francesco Cucca, Daniele Cusi, Ian J. Deary, George V. Dedoussis, Cornelia M. van Duijn, Johan G. Eriksson, Barbara Franke, Lude Franke, Paolo Gasparini, Pablo V. Gejman, Christian Gieger, Hans-Jörgen Grabe, Jacob Gratten, Patrick J. F. Groenen, Vilmundur Guðnason, Pim van der Harst, Caroline Hayward, David A. Hinds, Wolfgang Hoffmann, Elina Hyppönen, William G. Iacono, Bo Jacobsson, Marjo‐Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L. R. Kardia, Terho Lehtimäki, Steven F. Lehrer, Patrik K. E. Magnusson, Nicholas G. Martin, Matt McGue, Andres Metspalu, Neil Pendleton, Brenda W.J.H. Penninx, Markus Perola, Nicola Pirastu, Mario Pirastu, Ozren Polašek, Danielle Posthuma, Christine Power, Michael A. Province, Nilesh J. Samani, David Schlessinger, Reinhold Schmidt, Thorkild I. A. Sørensen, Tim D. Spector, Kari Stefansson, Unnur Thorsteinsdottir, Roy Thurik, Nicholas J. Timpson, Henning Tiemeier, Joyce Y. Tung, André G. Uitterlinden, Véronique Vitart, Péter Vollenweider, David R. Weir, Alan F. Wright, Dalton Conley, Robert F. Krueger, George Davey Smith, Albert Hofman, David I. Laibson, Sarah E. Medland, Michelle N. Meyer, Jian Yang, Magnus Johannesson, Peter M. Visscher, Tõnu Esko, Philipp Koellinger, David Cesarini, Daniel J. Benjamin

Bibliographic record

VenueNature · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsQueen's UniversityCentre for Global Health Research
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute on Drug AbuseNational Institute on AgingEconomic and Social Research CouncilBiotechnology and Biological Sciences Research CouncilVetenskapsrådetNational Institutes of HealthLundbeckfondenMedical Research CouncilNational Institute for Health and Care Research
KeywordsEducational attainmentGenome-wide association studyBiobankBiologyGeneticsGenetic associationCandidate geneGenetic variationSingle-nucleotide polymorphismGenomeGeneGenotypePolitical science

Abstract

fetched live from OpenAlex

A genome-wide association study in 293,723 individuals identifies 74 genetic variants associated with educational attainment, which, although only explaining a small proportion of the variation in educational attainment, highlights candidate genes and pathways for further study. The level of educational attainment as measured by years of schooling completed, while strongly influenced by social and environmental factors, has also been shown to have a smaller genetic contribution. Philipp Koellinger, Peter Visscher and colleagues from the Social Science Genetic Association Consortium (SSGAC) now report a genome-wide association study in 293,723 individuals identifying 74 genetic variants associated with level of educational attainment. Although the genetic associations explain only a small proportion of the variation in educational attainment, they highlight candidate genes and pathways for further study. Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals1. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample1,2 of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.

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 machine prediction

Teacher imitation

Not 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 score0.007
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.002
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.259
Teacher spread0.253 · 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 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".

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Citations1,487
Published2016
Admission routes1
Has abstractno

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