Journal article
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Proceedings of the National Academy of Sciences - PNAS, Vol.119(35), p.1
08/30/2022
DOI: 10.1073/pnas.2202764119
PMCID: PMC9436320
PMID: 35998220
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, P = 1.098 * [10.sup.-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. reading | language | genome-wide association study | meta-analysis
Details
- Title: Subtitle
- Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
- Creators
- Till F.M Andlauer - Max Planck Institute of PsychiatryElse Eising - Max Planck Institute for PsycholinguisticsManon BernardwTanner Koomar - University of IowaJ. Bruce Tomblin - University of IowaKirsten Blokland - Hospital for Sick ChildrenMilene Bonte - Maastricht UniversityNazanin Mirza-Schreiber - Helmholtz Zentrum MünchenEveline L de ZeeuwAnders D BørglumThomas Bourgeron - Centre National pour la Recherche Scientifique et Technique (CNRST)Carol A Wang - University of Newcastle AustraliaDongnhu T Truong - Yale UniversityDaniel Brandeis - University of ZurichAndrea G Allegrini - King's College LondonFabiola Ceroni - University of BolognaChin Yang Shapland - University of BristolValeria Csepe - HUN-REN Research Centre for Natural SciencesKaren G Wigg - University Health NetworkPhilip S Dale - University of New MexicoMargot L Gerritse - Max Planck Institute for PsycholinguisticsPeter F deJongBarbara Molz - Max Planck Institute for PsycholinguisticsDitte Demontis - Aarhus UniversityYu Feng - University Health NetworkGokberk Alagoz - Max Planck Institute for PsycholinguisticsScott D Gordon - QIMR Berghofer Medical Research InstituteAlessandro Gialluisi - Max Planck Institute of PsychiatryFilippo Abbondanza - University of St AndrewsSharon L Guger - Hospital for Sick ChildrenKaili RimfieldMarianna E Hayiou-ThomasMarjolein van DonkelaarJouke-Jan Hottenga - Vrije Universiteit AmsterdamZhijie Liao - University of TorontoCharles Hulme - University of OxfordElizabeth N Kerr - Hospital for Sick ChildrenPhilip R Jansen - Erasmus MCTimothy C BatesvKarin Landerl - University of GrazGabriel T Leonard - McGill UniversityMaureen W Lovett - Hospital for Sick ChildrenHeikki Lyytinen - University of JyväskyläNicholas G Martin - QIMR Berghofer Medical Research InstituteAngela Martinelli - University of St AndrewsUrs Maurer - Chinese University of Hong KongJacob J MichaelsonKristina Moll - Ludwig-Maximilians-Universität MünchenAnthony P Monaco - Tufts UniversityAngela T Morgan - Murdoch Children's Research InstituteMarkus M Nothen - Institut de Génétique HumaineZdenka Pausova - University of TorontoCraig E Pennell - University of Newcastle AustraliaBruce F Pennington - University of DenverKaitlyn M Price - University Health NetworkVeera M Rajagopal - Aarhus UniversityFranck Ramus - Laboratoire de Sciences Cognitives et PsycholinguistiqueLouis Richer - Université du Québec à ChicoutimiNuala H Simpson - University of OxfordShelley D Smith - University of Nebraska Medical CenterMargaret J Snowling - University of OxfordLisa J Strug - University of TorontoHenning Tiemeier - Erasmus MCMarc P van der SchroeffEllen Verhoef - Max Planck Institute for PsycholinguisticsKate E Watkins - University of OxfordMargaret Wilkinson - Hospital for Sick ChildrenMargaretJ WrightCathy L Barr - University Health NetworkDorret I Boomsma - Vrije Universiteit AmsterdamManuel Carreiras - Basque Center on Cognition, Brain and LanguageChristine J Marie-FrankenJeffrey R Gruen - Yale UniversityMichelle LucianovBertram Muller-Myhsok - University of LiverpoolDianne F Newbury - Oxford Brookes UniversityRichard K Olson - University of Colorado BoulderSilvia Paracchini - University of St AndrewsTomas Paus - Centre Hospitalier Universitaire Sainte-JustineRobert Plomin - King's College LondonSheena Reilly - Murdoch Children's Research InstituteGerd Schulte-Korne - Ludwig-Maximilians-Universität MünchenElsjevan BergenAndrewJ. O WhitehouseErik G Willcutt - University of Colorado BoulderBeate St Pourcain - Max Planck Institute for PsycholinguisticsClyde Francks - Radboud University NijmegenSimon E Fisher - Max Planck Institute for Psycholinguistics
- Resource Type
- Journal article
- Publication Details
- Proceedings of the National Academy of Sciences - PNAS, Vol.119(35), p.1
- DOI
- 10.1073/pnas.2202764119
- PMID
- 35998220
- PMCID
- PMC9436320
- NLM abbreviation
- Proc Natl Acad Sci U S A
- ISSN
- 0027-8424
- eISSN
- 1091-6490
- Publisher
- National Academy of Sciences
- Grant note
- DOI: 10.13039/501100000925, name: Department of Health | National Health and Medical Research Council, award: 1105008; DOI: 10.13039/501100000925, name: Department of Health | National Health and Medical Research Council, award: 1195955; DOI: 10.13039/501100000925, name: Department of Health | National Health and Medical Research Council, award: 1173896; DOI: 10.13039/100014370, name: Simons Foundation Autism Research Initiative, award: 514787; DOI: 10.13039/501100001722, name: Koninklijke Nederlandse Akademie van Wetenschappen, award: PAH/6635; DOI: 10.13039/100000002, name: HHS | National Institutes of Health, award: R01DC016977; DOI: 10.13039/100009633, name: HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development, award: P50 HD 27802; DOI: 10.13039/501100001665, name: Agence Nationale de la Recherche, award: ANR-06-NEURO-019-01, ANR-17-EURE-0017 IEC, ANR-10-IDEX-0001-02 PSL, ANR-11-BSV4-014-01; DOI: 10.13039/501100000780, name: European Commission, award: LSHM-CT-2005-018696; DOI: 10.13039/100009633, name: HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development, award: P50 HD 27802; DOI: 10.13039/501100001826, name: ZonMw, award: 016.VICI.170.200; DOI: 10.13039/100000002, name: HHS | National Institutes of Health, award: R01 DC014489; DOI: 10.13039/100010269, name: Wellcome Trust, award: WT082032MA; DOI: 10.13039/501100000288, name: Royal Society, award: UF150663; RGF\\EA\\180141; DOI: 10.13039/501100003554, name: Lundbeckfonden, award: R102-A9118, R155-2014-1724, and R248-2017-2003; DOI: 10.13039/100000025, name: HHS | NIH | National Institute of Mental Health, award: 1U01MH109514-01; DOI: 10.13039/501100003246, name: Nederlandse Organisatie voor Wetenschappelijk Onderzoek, award: Rubicon 446-12-005 and VENI 451-15-017
- Language
- English
- Date published
- 08/30/2022
- Description audience
- Academic
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Communication Sciences and Disorders; Psychiatry; Iowa Neuroscience Institute
- Record Identifier
- 9984296303202771
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