دورية أكاديمية
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
| العنوان: | Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. |
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| المؤلفون: | Eising E; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum Munich, 85764 Munich, Germany., de Zeeuw EL; Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands., Wang CA; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW 2308, Australia.; Mothers and Babies Research Program, Hunter Medical Research Institute, Newcastle, NSW 2305, Australia., Truong DT; Department of Pediatrics and Genetics, Yale Medical School, New Haven, CT 06510., Allegrini AG; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, United Kingdom., Shapland CY; MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, United Kingdom.; Population Health Sciences, University of Bristol, Bristol BS8 2PS, United Kingdom., Zhu G; Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Wigg KG; Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada., Gerritse ML; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Molz B; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Alagöz G; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Gialluisi A; Translational Research in Psychiatry, Max Planck Institute of Psychiatry, 80804 Munich, Germany.; Department of Epidemiology and Prevention, IRCCS Istituto Neurologico Mediterraneo Neuromed, 86077 Pozzilli, Italy.; Department of Medicine and Surgery, University of Insubria, 21100 Varese, Italy., Abbondanza F; School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland., Rimfeld K; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, United Kingdom.; Department of Psychology, Royal Holloway, University of London, Egham TW20 0EY, United Kingdom., van Donkelaar M; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Liao Z; Department of Psychology, University of Toronto, Toronto, ON M5S 3G3,Canada., Jansen PR; Department of Child and Adolescent Psychiatry/Psychology, Erasmus University Medical Center, 3000 CB Rotterdam, the Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, 1081 HV the Netherlands.; Department of Human Genetics, VU Medical Center, Amsterdam University Medical Center, 1081 BT Amsterdam, the Netherlands., Andlauer TFM; Translational Research in Psychiatry, Max Planck Institute of Psychiatry, 80804 Munich, Germany.; Department of Neurology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Bates TC; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, United Kingdom., Bernard M; Department of Physiology and Nutritional Sciences, University of Toronto, Toronto, ON M5S 1A1, Canada., Blokland K; Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada., Bonte M; Department of Cognitive Neuroscience and Maastricht Brain Imaging Center, Faculty of Psychology and Neuroscience, Maastricht University, 6229 ER Maastricht, the Netherlands., Børglum AD; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.; Center for Genomics and Personalized Medicine (CGPM), 8000 Aarhus, Denmark., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 Centre national de la recherche scientifique (CNRS), Université Paris Cité, Paris, 75015, France., Brandeis D; Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric Hospital, University of Zurich, 8032 Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich and ETH Zurich, 8057 Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, 8057 Zurich, Switzerland.; Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, 68159 Mannheim, Germany., Ceroni F; Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy.; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, United Kingdom., Csépe V; Brain Imaging Centre, Research Centre for Natural Sciences, Budapest, 1117 Hungary.; Multilingualism Doctoral School, Faculty of Modern Philology and Social Sciences, University of Pannonia, Veszprém, 8200 Hungary., Dale PS; Department of Speech & Hearing Sciences, University of New Mexico, Albuquerque, NM 87131., de Jong PF; Department of Child Development and Education, University of Amsterdam, 1012 WX Amsterdam, the Netherlands., DeFries JC; Institute for Behavioral Genetics, University of Colorado, Boulder, CO 80309-0447.; Department of Psychology and Neuroscience, University of Colorado, Boulder, CO 80309-0447., Démonet JF; Leenaards Memory Centre, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), University of Lausanne, CH-1011 Lausanne, Switzerland., Demontis D; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark., Feng Y; Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada., Gordon SD; Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Guger SL; Department of Psychology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Hayiou-Thomas ME; Department of Psychology, University of York, York YO10 5DD, United Kingdom., Hernández-Cabrera JA; Departamento de Psicología, Clínica Psicobiología y Metodología, 38200, La Laguna, Santa Cruz de Tenerife, Spain., Hottenga JJ; Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands., Hulme C; Department of Education, University of Oxford, Oxford, Oxfordshire OX2 6PY, United Kingdom., Kere J; Department of Biosciences and Nutrition, Karolinska Institutet, 171 77 Stockholm, Sweden.; Stem Cells and Metabolism Research Program, University of Helsinki and Folkhälsan Research Center, 00014 Helsinki, Finland., Kerr EN; Department of Psychology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Koomar T; Department of Psychiatry, University of Iowa, Iowa City, IA 52242., Landerl K; Institute of Psychology, University of Graz, 8010 Graz, Austria.; BioTechMed-Graz, 8010 Graz, Austria., Leonard GT; Cognitive Neuroscience Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1G1, Canada., Lovett MW; Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Lyytinen H; Department of Psychology, University of Jyväskylä, 40014 Jyväskylä, Finland., Martin NG; Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Martinelli A; School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland., Maurer U; Department of Psychology, The Chinese University of Hong Kong, Hong Kong, China., Michaelson JJ; Department of Psychiatry, University of Iowa, Iowa City, IA 52242., Moll K; Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Ludwig-Maximilians-University Hospital Munich, Munich, 80336 Germany., Monaco AP; Office of the President, Tufts University, Medford, MA 02155., Morgan AT; Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC 3052, Australia.; Speech Pathology Department, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Nöthen MM; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Pausova Z; Department of Physiology and Nutritional Sciences, University of Toronto, Toronto, ON M5S 1A1, Canada.; Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Pennell CE; School of Medicine and Public Health, The University of Newcastle, Newcastle, NSW 2308, Australia.; Mothers and Babies Research Program, Hunter Medical Research Institute, Newcastle, NSW 2305, Australia.; Maternity and Gynaecology, John Hunter Hospital, Newcastle, NSW 2305, Australia., Pennington BF; Department of Psychology, University of Denver, Denver, CO 80210., Price KM; Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada.; Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada.; Department of Physiology, University of Toronto, Toronto, ON M5S 1A8, Canada., Rajagopal VM; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark., Ramus 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; Department of Health Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada., Simpson NH; Department of Experimental Psychology, University of Oxford, Oxford OX2 6GG, United Kingdom., Smith SD; Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE 68198., Snowling MJ; Department of Experimental Psychology, University of Oxford, Oxford OX2 6GG, United Kingdom.; St. John's College, University of Oxford, Oxford OX1 3JP, United Kingdom., Stein J; Department of Physiology, Anatomy and Genetics, Oxford University, Oxford OX1 3PT, United Kingdom., Strug LJ; Department of Statistical Sciences and Computer Science and Division of Biostatistics, University of Toronto, Toronto, ON M5S 3G3, Canada.; Program in Genetics and Genome Biology and the Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Talcott JB; Institute for Health and Neurodevelopment, Aston University, Birmingham B4 7ET, United Kingdom., Tiemeier H; Department of Child and Adolescent Psychiatry/Psychology, Erasmus University Medical Center, 3000 CB Rotterdam, the Netherlands.; T. H. Chan School of Public Health, Harvard, Boston, MA 02115., van der Schroeff MP; Department of Otolaryngology, Head and Neck Surgery, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands.; Generation R Study Group, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands., Verhoef E; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Watkins KE; Department of Experimental Psychology, University of Oxford, Oxford OX2 6GG, United Kingdom., Wilkinson M; Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada., Wright MJ; Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia., Barr CL; Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON M5T 0S8, Canada.; Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, M5G 1X8 ON, Canada.; Department of Physiology, University of Toronto, Toronto, ON M5S 1A8, Canada., Boomsma DI; Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands.; Netherlands Twin Register, 1081 BT Amsterdam, the Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, 1105 AZ Amsterdam, the Netherlands., Carreiras M; Basque Center on Cognition, Brain and Language, Donostia-San Sebastian, 20009 Gipuzkoa, Spain.; Ikerbasque, Basque Foundation for Science, 48009 Bilbao, Vizcaya, Spain.; Lengua Vasca y Comunicación, University of the Basque Country, 48940 Bilbao, Vizcaya, Spain., Franken MJ; Department of Otolaryngology, Head and Neck Surgery, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands., Gruen JR; Department of Pediatrics and Genetics, Yale Medical School, New Haven, CT 06510., Luciano M; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, United Kingdom., Müller-Myhsok B; Translational Research in Psychiatry, Max Planck Institute of Psychiatry, 80804 Munich, Germany.; Department of Health Science, University of Liverpool, Liverpool L69 7ZX, United Kingdom., Newbury DF; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, United Kingdom., Olson RK; Institute for Behavioral Genetics, University of Colorado, Boulder, CO 80309-0447., Paracchini S; School of Medicine, University of St Andrews, KY16 9TF, St. Andrews, Scotland., Paus T; Department of Psychiatry and Neuroscience and Centre Hospitalier Universitaire Sainte Justine, University of Montreal, Montreal, QC H3T 1J4, Canada., Plomin R; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, United Kingdom., Reilly S; Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia., Schulte-Körne G; Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Ludwig-Maximilians-University Hospital Munich, Munich, 80336 Germany., Tomblin JB; Communication Sciences and Disorders, University of Iowa, Iowa City, IA 52242., van Bergen E; Department of Biological Psychology, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands.; Netherlands Twin Register, 1081 BT Amsterdam, the Netherlands.; Research Institute LEARN!, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, the Netherlands., Whitehouse AJO; Telethon Kids Institute, The University of Western Australia, Perth, WA 6009, Australia., Willcutt EG; Department of Psychology and Neuroscience, University of Colorado, Boulder, CO 80309-0447., St Pourcain B; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, United Kingdom.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, the Netherlands., Francks C; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, the Netherlands. |
| المصدر: | Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Aug 30; Vol. 119 (35), pp. e2202764119. Date of Electronic Publication: 2022 Aug 23. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Washington, DC : National Academy of Sciences |
| مواضيع طبية MeSH: | Genome-Wide Association Study* , Individuality* , Reading* , Speech*, Adolescent ; Adult ; Child ; Child, Preschool ; Genetic Loci ; Humans ; Language ; Polymorphism, Single Nucleotide ; Young Adult |
| مستخلص: | 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 × 10 -8 ) 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. |
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| معلومات مُعتمدة: | U24 DA041147 United States DA NIDA NIH HHS; U01 DA051039 United States DA NIDA NIH HHS; EP-C-15-001 United States EPA EPA; U01 DA051038 United States DA NIDA NIH HHS; G1000569 United Kingdom MRC_ Medical Research Council; U01 DA051037 United States DA NIDA NIH HHS; U01 MH109514 United States MH NIMH NIH HHS; U01 DA041106 United States DA NIDA NIH HHS; United Kingdom WT_ Wellcome Trust; RC2 MH089983 United States MH NIMH NIH HHS; P50 HD027802 United States HD NICHD NIH HHS; U01 DA041120 United States DA NIDA NIH HHS; R01 DC014489 United States DC NIDCD NIH HHS; 082036/B/07/Z United Kingdom WT_ Wellcome Trust; MC_PC_19009 United Kingdom MRC_ Medical Research Council; RC2 MH089995 United States MH NIMH NIH HHS; U01 DA051018 United States DA NIDA NIH HHS; K99 HD094902 United States HD NICHD NIH HHS; 075491/Z/04 United Kingdom WT_ Wellcome Trust; UL1 TR001863 United States TR NCATS NIH HHS; U01 DA041093 United States DA NIDA NIH HHS; R01 DC016977 United States DC NIDCD NIH HHS; 217065/Z/19/Z United Kingdom WT_ Wellcome Trust; U24 DA041123 United States DA NIDA NIH HHS; U01 DA041134 United States DA NIDA NIH HHS; U01 DA041022 United States DA NIDA NIH HHS; R01 AG046938 United States AG NIA NIH HHS; RC2 MH089924 United States MH NIMH NIH HHS; MC_PC_15018 United Kingdom MRC_ Medical Research Council; R01 MH058799 United States MH NIMH NIH HHS; U01 DA041156 United States DA NIDA NIH HHS; 076566/Z/05/Z United Kingdom WT_ Wellcome Trust; U01 DA050987 United States DA NIDA NIH HHS; U01 DA051016 United States DA NIDA NIH HHS; 204821/Z/16/Z United Kingdom WT_ Wellcome Trust; U01 DA041025 United States DA NIDA NIH HHS; U01 DA050989 United States DA NIDA NIH HHS; R01 NS043530 United States NS NINDS NIH HHS; U01 DA041089 United States DA NIDA NIH HHS; MR/M021475/1 United Kingdom MRC_ Medical Research Council; U01 DA050988 United States DA NIDA NIH HHS; U24 MH068457 United States MH NIMH NIH HHS; 105621/Z/14/Z United Kingdom WT_ Wellcome Trust; U01 DA041117 United States DA NIDA NIH HHS; U01 DA041028 United States DA NIDA NIH HHS; U01 DA041048 United States DA NIDA NIH HHS; G9815508 United Kingdom MRC_ Medical Research Council; P50 HD103556 United States HD NICHD NIH HHS; U01 DA041148 United States DA NIDA NIH HHS; MR/V012878 United Kingdom MRC_ Medical Research Council; MR/V012878/1 United Kingdom MRC_ Medical Research Council; U01 DA041174 United States DA NIDA NIH HHS; 076566 United Kingdom WT_ Wellcome Trust; RC2 DA029475 United States DA NIDA NIH HHS |
| فهرسة مساهمة: | Keywords: genome-wide association study; language; meta-analysis; reading |
| تواريخ الأحداث: | Date Created: 20220823 Date Completed: 20220825 Latest Revision: 20240313 |
| رمز التحديث: | 20240313 |
| مُعرف محوري في PubMed: | PMC9436320 |
| DOI: | 10.1073/pnas.2202764119 |
| PMID: | 35998220 |
| قاعدة البيانات: | MEDLINE |
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