Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
35998220
TITLE
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
ABSTRACT
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, = 1.098 × 10 ) 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.
DATE PUBLISHED
2022 Aug 30
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2022/08/23 14:03
pubmed 2022/08/24 06:00
medline 2022/08/26 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Eising E Eising Else E Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Mirza-Schreiber N Mirza-Schreiber Nazanin N Institute of Neurogenomics, Helmholtz Zentrum Munich, 85764 Munich, Germany.
de Zeeuw EL de Zeeuw Eveline L EL Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands.
Wang CA Wang Carol A CA Mothers and Babies Research Program, Hunter Medical Research Institute, Newcastle, NSW 2305, Australia.
Truong DT Truong Dongnhu T DT Department of Pediatrics and Genetics, Yale Medical School, New Haven, CT 06510.
Allegrini AG Allegrini Andrea G AG Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, United Kingdom.
Shapland CY Shapland Chin Yang CY Population Health Sciences, University of Bristol, Bristol BS8 2PS, United Kingdom.
Zhu G Zhu Gu G Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Wigg KG Wigg Karen G KG Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada.
Gerritse ML Gerritse Margot L ML Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Molz B Molz Barbara B Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Alagöz G Alagöz Gökberk G Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Gialluisi A Gialluisi Alessandro A Department of Medicine and Surgery, University of Insubria, 21100 Varese, Italy.
Abbondanza F Abbondanza Filippo F School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland.
Rimfeld K Rimfeld Kaili K Department of Psychology, Royal Holloway, University of London, Egham TW20 0EY, United Kingdom.
van Donkelaar M van Donkelaar Marjolein M Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Liao Z Liao Zhijie Z Department of Psychology, University of Toronto, Toronto, ON M5S 3G3,Canada.
Jansen PR Jansen Philip R PR Department of Human Genetics, VU Medical Center, Amsterdam University Medical Center, 1081 BT Amsterdam, the Netherlands.
Andlauer TFM Andlauer Till F M TFM Department of Neurology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Bates TC Bates Timothy C TC Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, United Kingdom.
Bernard M Bernard Manon M Department of Physiology and Nutritional Sciences, University of Toronto, Toronto, ON M5S 1A1, Canada.
Blokland K Blokland Kirsten K Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada.
Bonte M Bonte Milene M Department of Cognitive Neuroscience and Maastricht Brain Imaging Center, Faculty of Psychology and Neuroscience, Maastricht University, 6229 ER Maastricht, the Netherlands.
Børglum AD Børglum Anders D AD Center for Genomics and Personalized Medicine (CGPM), 8000 Aarhus, Denmark.
Bourgeron T Bourgeron Thomas T Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 Centre national de la recherche scientifique (CNRS), Université Paris Cité, Paris, 75015, France.
Brandeis D Brandeis Daniel D Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, 68159 Mannheim, Germany.
Ceroni F Ceroni Fabiola F Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, United Kingdom.
Csépe V Csépe Valéria V Multilingualism Doctoral School, Faculty of Modern Philology and Social Sciences, University of Pannonia, Veszprém, 8200 Hungary.
Dale PS Dale Philip S PS Department of Speech & Hearing Sciences, University of New Mexico, Albuquerque, NM 87131.
de Jong PF de Jong Peter F PF Department of Child Development and Education, University of Amsterdam, 1012 WX Amsterdam, the Netherlands.
DeFries JC DeFries John C JC Department of Psychology and Neuroscience, University of Colorado, Boulder, CO 80309-0447.
Démonet JF Démonet Jean-François JF Leenaards Memory Centre, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), University of Lausanne, CH-1011 Lausanne, Switzerland.
Demontis D Demontis Ditte D The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.
Feng Y Feng Yu Y Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada.
Gordon SD Gordon Scott D SD Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Guger SL Guger Sharon L SL Department of Psychology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Hayiou-Thomas ME Hayiou-Thomas Marianna E ME Department of Psychology, University of York, York YO10 5DD, United Kingdom.
Hernández-Cabrera JA Hernández-Cabrera Juan A JA Departamento de Psicología, Clínica Psicobiología y Metodología, 38200, La Laguna, Santa Cruz de Tenerife, Spain.
Hottenga JJ Hottenga Jouke-Jan JJ Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands.
Hulme C Hulme Charles C Department of Education, University of Oxford, Oxford, Oxfordshire OX2 6PY, United Kingdom.
Kere J Kere Juha J Stem Cells and Metabolism Research Program, University of Helsinki and Folkhälsan Research Center, 00014 Helsinki, Finland.
Kerr EN Kerr Elizabeth N EN Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Koomar T Koomar Tanner T Department of Psychiatry, University of Iowa, Iowa City, IA 52242.
Landerl K Landerl Karin K BioTechMed-Graz, 8010 Graz, Austria.
Leonard GT Leonard Gabriel T GT Cognitive Neuroscience Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1G1, Canada.
Lovett MW Lovett Maureen W MW Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Lyytinen H Lyytinen Heikki H Department of Psychology, University of Jyväskylä, 40014 Jyväskylä, Finland.
Martin NG Martin Nicholas G NG Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Martinelli A Martinelli Angela A School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland.
Maurer U Maurer Urs U Department of Psychology, The Chinese University of Hong Kong, Hong Kong, China.
Michaelson JJ Michaelson Jacob J JJ Department of Psychiatry, University of Iowa, Iowa City, IA 52242.
Moll K Moll Kristina K Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Ludwig-Maximilians-University Hospital Munich, Munich, 80336 Germany.
Monaco AP Monaco Anthony P AP Office of the President, Tufts University, Medford, MA 02155.
Morgan AT Morgan Angela T AT Speech Pathology Department, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Nöthen MM Nöthen Markus M MM Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.
Pausova Z Pausova Zdenka Z Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Pennell CE Pennell Craig E CE Maternity and Gynaecology, John Hunter Hospital, Newcastle, NSW 2305, Australia.
Pennington BF Pennington Bruce F BF Department of Psychology, University of Denver, Denver, CO 80210.
Price KM Price Kaitlyn M KM Department of Physiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
Rajagopal VM Rajagopal Veera M VM The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.
Ramus F Ramus Franck F Laboratoire de Sciences Cognitives et Psycholinguistique, Ecole Normale Supérieure, Paris Sciences & Lettres University, École des Hautes Études en Sciences Sociales (EHESS), Centre National de la Recherche Scientifique (CNRS), Paris, 75005 France.
Richer L Richer Louis L Department of Health Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada.
Simpson NH Simpson Nuala H NH Department of Experimental Psychology, University of Oxford, Oxford OX2 6GG, United Kingdom.
Smith SD Smith Shelley D SD Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE 68198.
Snowling MJ Snowling Margaret J MJ St. John's College, University of Oxford, Oxford OX1 3JP, United Kingdom.
Stein J Stein John J Department of Physiology, Anatomy and Genetics, Oxford University, Oxford OX1 3PT, United Kingdom.
Strug LJ Strug Lisa J LJ Program in Genetics and Genome Biology and the Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Talcott JB Talcott Joel B JB Institute for Health and Neurodevelopment, Aston University, Birmingham B4 7ET, United Kingdom.
Tiemeier H Tiemeier Henning H T. H. Chan School of Public Health, Harvard, Boston, MA 02115.
van der Schroeff MP van der Schroeff Marc P MP Generation R Study Group, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands.
Verhoef E Verhoef Ellen E Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
Watkins KE Watkins Kate E KE Department of Experimental Psychology, University of Oxford, Oxford OX2 6GG, United Kingdom.
Wilkinson M Wilkinson Margaret M Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada.
Wright MJ Wright Margaret J MJ Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia.
Barr CL Barr Cathy L CL Department of Physiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
Boomsma DI Boomsma Dorret I DI Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, 1105 AZ Amsterdam, the Netherlands.
Carreiras M Carreiras Manuel M Lengua Vasca y Comunicación, University of the Basque Country, 48940 Bilbao, Vizcaya, Spain.
Franken MJ Franken Marie-Christine J MJ Department of Otolaryngology, Head and Neck Surgery, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gruen JR Gruen Jeffrey R JR Department of Pediatrics and Genetics, Yale Medical School, New Haven, CT 06510.
Luciano M Luciano Michelle M Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, United Kingdom.
Müller-Myhsok B Müller-Myhsok Bertram B Department of Health Science, University of Liverpool, Liverpool L69 7ZX, United Kingdom.
Newbury DF Newbury Dianne F DF Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, United Kingdom.
Olson RK Olson Richard K RK Institute for Behavioral Genetics, University of Colorado, Boulder, CO 80309-0447.
Paracchini S Paracchini Silvia S School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland.
Paus T Paus Tomáš T Department of Psychiatry and Neuroscience and Centre Hospitalier Universitaire Sainte Justine, University of Montreal, Montreal, QC H3T 1J4, Canada.
Plomin R Plomin Robert R Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, United Kingdom.
Reilly S Reilly Sheena S Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia.
Schulte-Körne G Schulte-Körne Gerd G Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Ludwig-Maximilians-University Hospital Munich, Munich, 80336 Germany.
Tomblin JB Tomblin J Bruce JB Communication Sciences and Disorders, University of Iowa, Iowa City, IA 52242.
van Bergen E van Bergen Elsje E Research Institute LEARN!, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands.
Whitehouse AJO Whitehouse Andrew J O AJO Telethon Kids Institute, The University of Western Australia, Perth, WA 6009, Australia.
Willcutt EG Willcutt Erik G EG Department of Psychology and Neuroscience, University of Colorado, Boulder, CO 80309-0447.
St Pourcain B St Pourcain Beate B Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, the Netherlands.
Francks C Francks Clyde C Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Fisher SE Fisher Simon E SE Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, the Netherlands.
INVESTIGATORS
JOURNAL
VOLUME: 119
ISSUE: 35
TITLE: Proceedings of the National Academy of Sciences of the United States of America
ISOABBREVIATION: Proc Natl Acad Sci U S A
YEAR: 2022
MONTH: Aug
DAY: 30
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1091-6490
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Proc Natl Acad Sci U S A
COUNTRY: United States
ISSNLINKING: 0027-8424
NLMUNIQUEID: 7505876
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
U01 DA051039 NIDA NIH HHS United States
R01 DC014489 NIDCD NIH HHS United States
1105008 Department of Health | National Health and Medical Research Council (NHMRC)
U01 DA051038 NIDA NIH HHS United States
RC2 MH089924 NIMH NIH HHS United States
U01 DA051037 NIDA NIH HHS United States
U01 DA051016 NIDA NIH HHS United States
U01 MH109514 NIMH NIH HHS United States
U01 DA041106 NIDA NIH HHS United States
U01 DA041148 NIDA NIH HHS United States
Wellcome Trust United Kingdom
016.VICI.170.200 ZonMw (Netherlands Organisation for Health Research and Development)
RC2 MH089983 NIMH NIH HHS United States
R01DC016977 HHS | National Institutes of Health (NIH)
P50 HD 27802 HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
U24 DA041147 NIDA NIH HHS United States
ANR-06-NEURO-019-01 Agence Nationale de la Recherche (ANR)
P50 HD027802 NICHD NIH HHS United States
U01 DA041120 NIDA NIH HHS United States
1173896 Department of Health | National Health and Medical Research Council (NHMRC)
1195955 Department of Health | National Health and Medical Research Council (NHMRC)
RC2 MH089995 NIMH NIH HHS United States
U01 DA051018 NIDA NIH HHS United States
K99 HD094902 NICHD NIH HHS United States
U01 DA041093 NIDA NIH HHS United States
R01 DC016977 NIDCD NIH HHS United States
1U01MH109514-01 HHS | NIH | National Institute of Mental Health (NIMH)
EP-C-15-001 EPA United States
U24 DA041123 NIDA NIH HHS United States
UF150663; RGF\EA\180141 Royal Society (The Royal Society)
514787 Simons Foundation Autism Research Initiative (SFARI)
PAH/6635 Koninklijke Nederlandse Akademie van Wetenschappen (KNAW)
U01 DA041134 NIDA NIH HHS United States
U01 DA041022 NIDA NIH HHS United States
R01 AG046938 NIA NIH HHS United States
R01 MH058799 NIMH NIH HHS United States
U01 DA041156 NIDA NIH HHS United States
U01 DA050987 NIDA NIH HHS United States
U01 DA041025 NIDA NIH HHS United States
LSHM-CT-2005-018696 European Commission (EC)
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R01 NS043530 NINDS NIH HHS United States
U01 DA050988 NIDA NIH HHS United States
U24 MH068457 NIMH NIH HHS United States
U01 DA041089 NIDA NIH HHS United States
Rubicon 446-12-005 and VENI 451-15-017 Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO)
R102-A9118 Lundbeckfonden (Lundbeck Foundation)
U01 DA041117 NIDA NIH HHS United States
U01 DA041028 NIDA NIH HHS United States
U01 DA041048 NIDA NIH HHS United States
U01 DA041174 NIDA NIH HHS United States
WT082032MA Wellcome Trust (WT)
RC2 DA029475 NIDA NIH HHS United States
GENERAL NOTE
KEYWORDS
KEYWORD
genome-wide association study
language
meta-analysis
reading
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Child
Child, Preschool
Genetic Loci
Genome-Wide Association Study
Humans
Individuality
Language
Polymorphism, Single Nucleotide
Reading
Speech
Young Adult
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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