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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

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DOI

  • Else Eising, Max Planck Institute for Psycholinguistics
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  • Nazanin Mirza-Schreiber, Helmholtz Zentrum München - German Research Center for Environmental Health
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  • Eveline L. de Zeeuw, Vrije Universiteit Amsterdam
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  • Carol A. Wang, Hunter Medical Research Institute, University of Newcastle
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  • Dongnhu T. Truong, Yale University
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  • Andrea G. Allegrini, King's College London
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  • Chin Yang Shapland, University of Bristol
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  • Gu Zhu, Queensland Institute of Medical Research
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  • Karen G. Wigg, University Health Network
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  • Margot L. Gerritse, Max Planck Institute for Psycholinguistics
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  • Barbara Molz, Max Planck Institute for Psycholinguistics
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  • Gokberk Alagoz, Max Planck Institute for Psycholinguistics
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  • Alessandro Gialluisi, Max Planck Institute of Psychiatry, IRCCS Istituto Neurologico Mediterraneo Neuromed - Pozzilli (IS), University of Insubria
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  • Filippo Abbondanza, University of St Andrews
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  • Kaili Rimfeld, King's College London, Royal Holloway University of London
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  • Marjolein van Donkelaar, Max Planck Institute for Psycholinguistics
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  • Zhijie Liao, University of Toronto
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  • Philip R. Jansen, Erasmus University Rotterdam, Vrije Universiteit Amsterdam
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  • Till F.M. Andlauer, Max Planck Institute of Psychiatry, Technical University of Munich
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  • Timothy C. Bates, University of Edinburgh
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  • Manon Bernard, University of Toronto
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  • Kirsten Blokland, University of Toronto
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  • Milene Bonte, Maastricht University
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  • Anders D. Børglum
  • Thomas Bourgeron, Université de Paris
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  • Daniel Brandeis, University of Zurich, Heidelberg University 
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  • Fabiola Ceroni, University of Bologna, Oxford Brookes University
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  • Valeria Csepe, University of Pannonia, Research Centre for Natural Sciences
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  • Philip S. Dale, University of New Mexico
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  • Peter F. de Jong, University of Amsterdam
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  • John C. DeFries, University of Colorado Boulder
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  • Jean François Demonet, University of Lausanne
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  • Ditte Demontis
  • Yu Feng, University Health Network
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  • Scott D. Gordon, Queensland Institute of Medical Research
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  • Sharon L. Guger, University of Toronto
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  • Marianna E. Hayiou-Thomas, University of York
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  • Juan A. Hernandez-Cabrera, Clınica Psicobiologıa y Metodologıa
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  • Jouke Jan Hottenga, Vrije Universiteit Amsterdam
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  • Charles Hulme, University of Oxford
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  • Juha Kere, Karolinska Institutet, University of Helsinki
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  • Elizabeth N. Kerr, University of Toronto
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  • Tanner Koomar, University of Iowa
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  • Karin Landerl, University of Graz, BioTechMed-Graz
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  • Gabriel T. Leonard, McGill University
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  • Maureen W. Lovett, University of Toronto
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  • Heikki Lyytinen, University of Jyväskylä
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  • Nicholas G. Martin, Queensland Institute of Medical Research
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  • Angela Martinelli, University of St Andrews
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  • Urs Maurer, Chinese University of Hong Kong
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  • Jacob J. Michaelson, University of Iowa
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  • Kristina Moll, Ludwig Maximilian University of Munich
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  • Anthony P. Monaco, Tufts University
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  • Angela T. Morgan, Murdoch Children's Research Institute, University of Melbourne, Royal Children's Hospital
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  • Markus M. Nothen, University of Bonn
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  • Zdenka Pausova, University of Toronto
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  • Craig E. Pennell, School of Medicine and Public Health, Hunter Medical Research Institute, John Hunter Hospital
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  • Bruce F. Pennington, University of Denver
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  • Kaitlyn M. Price, University Health Network, University of Toronto
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  • Veera M. Rajagopal, iPSYCH -The Lundbeck Foundation Initiative for Integrative Psychiatric Research
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  • Franck Ramus, PSL Research University
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  • Louis Richer, Université du Québec à Chicoutimi
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  • Nuala H. Simpson, University of Oxford
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  • Shelley D. Smith, University of Nebraska Medical Center
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  • Margaret J. Snowling, University of Oxford
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  • John Stein, University of Oxford
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  • Lisa J. Strug, University of Toronto
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  • Joel B. Talcott, Aston University
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  • Henning Tiemeier, Erasmus University Rotterdam, Harvard University
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  • Marc P. van der Schroeff, Erasmus University Rotterdam
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  • Ellen Verhoef, Max Planck Institute for Psycholinguistics
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  • Kate E. Watkins, University of Oxford
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  • Margaret Wilkinson, University of Toronto
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  • Margaret J. Wright, University of Queensland
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  • Cathy L. Barr, University Health Network, University of Toronto
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  • Dorret I. Boomsma, Vrije Universiteit Amsterdam, Netherlands Twin Register, Amsterdam UMC
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  • Manuel Carreiras, BCBL – Basque Center on Cognition, Brain and Language, Ikerbasque Basque Foundation for Science, University of the Basque Country
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  • Marie Christine J. Franken, Erasmus University Rotterdam
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  • Jeffrey R. Gruen, Yale University
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  • Michelle Luciano, University of Edinburgh
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  • Bertram Muller-Myhsok, Max Planck Institute of Psychiatry, University of Liverpool
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  • Dianne F. Newbury, Oxford Brookes University
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  • Richard K. Olson, University of Colorado Boulder
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  • Silvia Paracchini, University of St Andrews
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  • Tomas Paus, University of Montreal
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  • Robert Plomin, King's College London
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  • Sheena Reilly, Murdoch Children's Research Institute, Griffith University Queensland
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  • Gerd Schulte-Korne, Ludwig Maximilian University of Munich
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  • J. Bruce Tomblin, University of Iowa
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  • Elsje van Bergen, Vrije Universiteit Amsterdam, Netherlands Twin Register
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  • Andrew J.O. Whitehouse, Telethon Kids Institute
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  • Erik G. Willcutt, University of Colorado Boulder
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  • Beate St Pourcain, Max Planck Institute for Psycholinguistics, University of Bristol, Radboud University Nijmegen
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  • Clyde Francks, Max Planck Institute for Psycholinguistics, Radboud University Nijmegen
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  • Simon E. Fisher, Max Planck Institute for Psycholinguistics, Radboud University Nijmegen

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 1028) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

Original languageEnglish
Article numbere2202764119
JournalPNAS (Proceedings of the National Academy of Sciences of the United States of America)
Volume119
Issue35
ISSN0027-8424
DOIs
Publication statusPublished - Aug 2022

Bibliographical note

Publisher Copyright:
Copyright © 2022 the Author(s).

    Research areas

  • genome-wide association study, language, meta-analysis, reading

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