University of Jyväskylä | JYX Digital Repository

 
View Item 

Show simple item record

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

dc.contributor.authorEising, Else
dc.contributor.authorMirza-Schreiber, Nazanin
dc.contributor.authorde Zeeuw, Eveline L.
dc.contributor.authorWang, Carol A.
dc.contributor.authorTruong, Dongnhu T.
dc.contributor.authorAllegrini, Andrea G.
dc.contributor.authorShapland, Chin Yang
dc.contributor.authorZhu, Gu
dc.contributor.authorWigg, Karen G.
dc.contributor.authorGerritse, Margot L.
dc.contributor.authorMolz, Barbara
dc.contributor.authorAlagöz, Gökberk
dc.contributor.authorGialluisi, Alessandro
dc.contributor.authorAbbondanza, Filippo
dc.contributor.authorRimfeld, Kaili
dc.contributor.authorvan Donkelaar, Marjolein
dc.contributor.authorLiao, Zhijie
dc.contributor.authorJansen, Philip R.
dc.contributor.authorAndlauer, Till F. M.
dc.contributor.authorBates, Timothy C.
dc.contributor.authorBernard, Manon
dc.contributor.authorBlokland, Kirsten
dc.contributor.authorBonte, Milene
dc.contributor.authorBørglum, Anders D.
dc.contributor.authorBourgeron, Thomas
dc.contributor.authorBrandeis, Daniel
dc.contributor.authorCeroni, Fabiola
dc.contributor.authorCsépe, Valéria
dc.contributor.authorDale, Philip S.
dc.contributor.authorde Jong, Peter F.
dc.contributor.authorDeFries, John C.
dc.contributor.authorDémonet, Jean-François
dc.contributor.authorDemontis, Ditte
dc.contributor.authorFeng, Yu
dc.contributor.authorGordon, Scott D.
dc.contributor.authorGuger, Sharon L.
dc.contributor.authorHayiou-Thomas, Marianna E.
dc.contributor.authorHernández-Cabrera, Juan A.
dc.contributor.authorHottenga, Jouke-Jan
dc.contributor.authorHulme, Charles
dc.contributor.authorKere, Juha
dc.contributor.authorKerr, Elizabeth N.
dc.contributor.authorKoomar, Tanner
dc.contributor.authorLanderl, Karin
dc.contributor.authorLeonard, Gabriel T.
dc.contributor.authorLovett, Maureen W.
dc.contributor.authorLyytinen, Heikki
dc.contributor.authorMartin, Nicholas G.
dc.contributor.authorMartinelli, Angela
dc.contributor.authorMaurer, Urs
dc.contributor.authorMichaelson, Jacob J.
dc.contributor.authorMoll, Kristina
dc.contributor.authorMonaco, Anthony P.
dc.contributor.authorMorgan, Angela T.
dc.contributor.authorNöthen, Markus M.
dc.contributor.authorPausova, Zdenka
dc.contributor.authorPennell, Craig E.
dc.contributor.authorPennington, Bruce F.
dc.contributor.authorPrice, Kaitlyn M.
dc.contributor.authorRajagopal, Veera M.
dc.contributor.authorRamus, Franck
dc.contributor.authorRicher, Louis
dc.contributor.authorSimpson, Nuala H.
dc.contributor.authorSmith, Shelley D.
dc.contributor.authorSnowling, Margaret J.
dc.contributor.authorStein, John
dc.contributor.authorStrug, Lisa J.
dc.contributor.authorTalcott, Joel B.
dc.contributor.authorTiemeier, Henning
dc.contributor.authorvan der Schroeff, Marc P.
dc.contributor.authorVerhoef, Ellen
dc.contributor.authorWatkins, Kate E.
dc.contributor.authorWilkinson, Margaret
dc.contributor.authorWright, Margaret J.
dc.contributor.authorBarr, Cathy L.
dc.contributor.authorBoomsma, Dorret I.
dc.contributor.authorCarreiras, Manuel
dc.contributor.authorFranken, Marie-Christine J.
dc.contributor.authorGruen, Jeffrey R.
dc.contributor.authorLuciano, Michelle
dc.contributor.authorMüller-Myhsok, Bertram
dc.contributor.authorNewbury, Dianne F.
dc.contributor.authorOlson, Richard K.
dc.contributor.authorParacchini, Silvia
dc.contributor.authorPaus, Tomáš
dc.contributor.authorPlomin, Robert
dc.contributor.authorReilly, Sheena
dc.contributor.authorSchulte-Körne, Gerd
dc.contributor.authorTomblin, J. Bruce
dc.contributor.authorvan Bergen, Elsje
dc.contributor.authorWhitehouse, Andrew J. O.
dc.contributor.authorWillcutt, Erik G.
dc.contributor.authorSt Pourcain, Beate
dc.contributor.authorFrancks, Clyde
dc.contributor.authorFisher, Simon E.
dc.date.accessioned2022-08-29T06:42:02Z
dc.date.available2022-08-29T06:42:02Z
dc.date.issued2022
dc.identifier.citationEising, E., Mirza-Schreiber, N., de Zeeuw, E. L., Wang, C. A., Truong, D. T., Allegrini, A. G., Shapland, C. Y., Zhu, G., Wigg, K. G., Gerritse, M. L., Molz, B., Alagöz, G., Gialluisi, A., Abbondanza, F., Rimfeld, K., van Donkelaar, M., Liao, Z., Jansen, P. R., Andlauer, T. F. M., . . . Fisher, S. E. (2022). Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. <i>Proceedings of the National Academy of Sciences of the United States of America</i>, <i>119</i>(35), Article e2202764119. <a href="https://doi.org/10.1073/pnas.2202764119" target="_blank">https://doi.org/10.1073/pnas.2202764119</a>
dc.identifier.otherCONVID_151805632
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/82860
dc.description.abstractThe 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.en
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherNational Academy of Sciences
dc.relation.ispartofseriesProceedings of the National Academy of Sciences of the United States of America
dc.rightsCC BY 4.0
dc.subject.otherreading
dc.subject.otherlanguage
dc.subject.othergenome-wide association study
dc.subject.othermeta-analysis
dc.titleGenome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-202208294389
dc.contributor.laitosPsykologian laitosfi
dc.contributor.laitosDepartment of Psychologyen
dc.contributor.oppiainePsykologiafi
dc.contributor.oppiainePsychologyen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.relation.issn0027-8424
dc.relation.numberinseries35
dc.relation.volume119
dc.type.versionpublishedVersion
dc.rights.copyright© 2022 the Author(s). Published by PNAS
dc.rights.accesslevelopenAccessfi
dc.subject.ysoperimä
dc.subject.ysometa-analyysi
dc.subject.ysokieli ja kielet
dc.subject.ysokielitaito
dc.subject.ysoperinnöllisyys
dc.subject.ysolukeminen
dc.subject.ysolukutaito
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p8862
jyx.subject.urihttp://www.yso.fi/onto/yso/p27697
jyx.subject.urihttp://www.yso.fi/onto/yso/p556
jyx.subject.urihttp://www.yso.fi/onto/yso/p5797
jyx.subject.urihttp://www.yso.fi/onto/yso/p9514
jyx.subject.urihttp://www.yso.fi/onto/yso/p11406
jyx.subject.urihttp://www.yso.fi/onto/yso/p11405
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.datasethttps://hdl.handle.net/1839/cf54b64f-fc37-4abf-a6ac-fdebcfe3b8c3
dc.relation.doi10.1073/pnas.2202764119
jyx.fundinginformationB.M., B.M.-M., B.S.P., C.F., E.E., E.V., G.A., M.v.D., and S.E.F. are supported by the Max Planck Society. A.G. and T.F.M.A. were supported by the Munich Cluster for Systems Neurology (SyNergy), and A.G. was supported by Fondazione Umberto Veronesi. A.T.M. is supported by National Health and Medical Research Council of Australia (NHMRC) Grants 1105008 and 1195955 and Centre of Research Excellence Grant 1116976. A.J.O.W. is supported by NHMRC Grant 1173896. B.S.P. is supported by Simons Foundation Autism Research Initiative Grant 514787. C.Y.S. works in the Medical Research Council Integrative Epidemiology Unit at the University of Bristol (MC_UU_00011/3). D.I.B. acknowledges Royal Netherlands Academy of Science Professor Award PAH/6635. E.E. is supported by NIH Grant R01DC016977. E.G.W. and J.R.G. are supported by National Institute of Child Health and Human Development (NICHD) Grant P50 HD 27802. F.R. is supported by Agence Nationale de la Recherche Grants ANR-06-NEURO-019-01, ANR-17-EURE-0017 IEC, ANR-10-IDEX-0001-02 PSL, and ANR-11-BSV4-014-01 and European Commission Grant LSHM-CT-2005-018696. H.T. is supported by the Netherlands Organization for Scientific Research (NWO) and Netherlands Organisation for Health Research and Development (ZonMW) Grant VICI 016.VICI.170.200. J.C.D. was supported by NICHD Grant P50 HD 27802. J.J.M., J.B.To., and T.K. were supported by NIH Grant R01 DC014489. K.M.P. was supported by the Hospital for Sick Children Research Training Program (Restracomp). K.R. is supported by a Sir Henry Wellcome Postdoctoral Fellowship (213514/Z/18/Z). M.J.S. is supported by Wellcome Trust Grant WT082032MA. S.P. and F.A. are supported by Royal Society Grants UF150663 and RGF\EA\180141. T.B. is supported by Institut Pasteur, the Bettencourt-Schueller Foundation, and Université de Paris. The Adolescent Brain Cognitive Development Study is supported by the NIH and additional federal partners (NIH Grants U01DA041048, U01DA050989, U01DA051016, U01DA041022, U01DA051018, U01DA051037, U01DA050987, U01DA041174, U01DA041106, U01DA041117, U01DA041028, U01DA041134, U01DA050988, U01DA051039, U01DA041156, U01DA041025, U01DA041120, U01DA051038, U01DA041148, U01DA041093, U01DA041089, U24DA041123, and U24DA041147). The Aston Cohort was supported by funding from European Union (EU) Horizon 2020 Programme 641652 and Waterloo Foundation Grant 797/17290. The St. Andrews Bioinformatics Unit is funded by Wellcome Trust Grants 105621/Z/14/Z and 204821/Z/16/Z. ALSPAC is supported by UK Medical Research Council and Wellcome Grant 217065/Z/19/Z and the University of Bristol. A comprehensive list of grant funding is available on the ALSPAC website (http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf). The Basque Center on Cognition, Brain and Language (BCBL) cohort was supported by the Basque Government through the Basic Excellence Research Centre program and the Agencia Estatal de Investigación through BCBL Severo Ochoa excellence accreditation. The Brisbane Adolescent Twin Sample was supported by Australian Research Council Grants A7960034, A79906588, A79801419, DP0212016, and DP0343921, with genotyping funded by the NHMRC Grant 389891. The Colorado Learning Disabilities Research Center cohort was supported by NICHD Grant P50 HD 27802. The Early Language in Victoria Study was supported by NHMRC Grant 436958. The Familial Influences on Literacy Abilities cohort is supported by the University of Amsterdam, the Max Planck Institue Nijmegen, and NWO Grants Rubicon 446-12-005 and VENI 451-15-017. The GRaD study was funded by the Manton Foundation, NIH Grants P50-HD027802 and K99-HD094902, and the Lambert Family. NeuroDys was funded by an EU Sixth Framework Program grant to the NeuroDys Consortium, Swiss National Science Foundation Grant 32-108130, and Austrian Science Fund Grant 18351-B02. The Netherlands Twin Register is funded by NWO Grants 480-04-004, 481-08-011,...
dc.type.okmA1


Files in this item

Thumbnail
Name:
pnas.2202764119.pdf
Size:
1.750Mb
Format:
PDF
View/Open

This item appears in the following Collection(s)

Show simple item record

CC BY 4.0
Except where otherwise noted, this item's license is described as CC BY 4.0
Data Protection Description

Accessibility Statement

Unless otherwise specified, publicly available JYX metadata (excluding abstracts) may be freely reused under the CC0 waiver.