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Eising, 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.M.J.* ; Liao, Z.* ; Jansen, P.R.* ; Andlauer, T.F.M.* ; Bates, T.C.* ; Bernard, M.* ; Blokland, K.* ; Bonte, M.* ; Børglum, A.D.* ; Bourgeron, T.* ; Brandeis, D.* ; Ceroni, F.* ; Csépe, V.* ; Dale, P.S.* ; de Jong, P.F.* ; DeFries, J.C.* ; Demonet, J.F.* ; Demontis, D.* ; Feng, Y.* ; Gordon, S.D.* ; Guger, S.L.* ; Hayiou-Thomas, M.E.* ; Hernández-Cabrera, J.A.* ; Hottenga, J.J.* ; Hulme, C.* ; Kere, J.* ; Kerr, E.N.* ; Koomar, T.* ; Landerl, K.* ; Leonard, G.T.* ; Lovett, M.W.* ; Lyytinen, H.* ; Martin, N.G.* ; Martinelli, A.* ; Maurer, U.* ; Michaelson, J.J.* ; Moll, K.* ; Monaco, A.P.* ; Morgan, A.T.* ; Nöthen, M.M.* ; Pausova, Z.* ; Pennell, C.E.* ; Pennington, B.F.* ; Price, K.M.* ; Rajagopal, V.M.* ; Ramus, F.* ; Richer, L.* ; Simpson, N.H.* ; Smith, S.D.* ; Snowling, M.J.* ; Stein, J.* ; Strug, L.J.* ; Talcott, J.B.* ; Tiemeier, H.* ; van der Schroeff, M.P.* ; Verhoef, E.* ; Watkins, K.E.* ; Wilkinson, M.* ; Wright, M.J.* ; Barr, C.L.* ; Boomsma, D.I.* ; Carreiras, M.* ; Franken, M.J.* ; Gruen, J.R.* ; Luciano, M.* ; Müller-Myhsok, B.* ; Newbury, D.F.* ; Olson, R.K.* ; Paracchini, S.* ; Paus, T.* ; Plomin, R.* ; Reilly, S.* ; Schulte-Körne, G.* ; Tomblin, J.B.* ; van Bergen, E.* ; Whitehouse, A.J.O.* ; Willcutt, E.G.* ; St Pourcain, B.* ; Francks, C.* ; Fisher, S.E.*

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

Proc. Natl. Acad. Sci. U.S.A. 119:e2202764119 (2022)
Postprint Research data DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association Study ; Language ; Meta-analysis ; Reading; Ld Score Regression; Spoken Language; Heritability; Association; Abilities; Speech; Genes; Word; Identification; Repetition
ISSN (print) / ISBN 0027-8424
e-ISSN 1091-6490
Journal Proceedings of the National Academy of Sciences of the United States of America
Quellenangaben Volume: 119, Issue: 35, Pages: , Article Number: e2202764119 Supplement: ,
Publisher National Academy of Sciences
Publishing Place 2101 Constitution Ave Nw, Washington, Dc 20418 Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants NICHD NIH HHS
EPA
NIDCD NIH HHS
Wellcome Trust
Medical Research Council
NIA NIH HHS
NINDS NIH HHS
NIDA NIH HHS
NIMH NIH HHS
CIHR