Journal Article

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


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 30-80%, 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 5-26 years. We identified genome-wide significant association with word reading (rs11208009, p=1.098 x 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 13-26% of trait variability. Genomic structural equation modelling revealed a shared genetic factor explaining most 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 of multivariate GWAS results with neuroimaging traits identified association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to 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 new avenues for deciphering the biological underpinnings of uniquely human traits.

Attached files


Eising, Else
Mirza-Schreiber, Nazanin
de Zeeuw, Eveline L.
Wang, Carol A.
Truong, Dongnhu T.
Allegrini, Andrea G.
Shapland, Chin Yang
Zhu Gu
Wigg, Karen G.
Gerritse, Margot
Molz, Barbara
Alagöz, Gökberk
Gialluisi, Alessandro
Abbondanza, Filippo
Rimfeld, Kaili
van Donkelaar, Marjolein
Liao Zhijie
Jansen, Philip R.
Andlauer, Till F.M.
Bates, Timothy C.
Bernard, Manon
Blokland, Kirsten
Bonte, Milene
Børglum Anders D.
Bourgeron, Thomas
Brandeis, Daniel
Ceroni, Fabiola
Csépe, Valeria
Dale, Philip S.
de Jong, Peter F.
DeFries, John C.
Demontis, Ditte
Feng Yu
Gordon, Scott D.
Guger, Sharon L.
Hayiou-Thomas, Marianna E.
Hernández-Cabrera, Juan A.
Hottenga, Jouke-Jan
Hulme, Charles
Kere, Juha
Kerr, Elizabeth N.
Koomar, Tanner
Landerl, Karin
Leonard, Gabriel
Lovett, Maureen W.
Lyytinen, Heikki
Martin, Nicholas G.
Martinelli, Angela
Maurer, Urs
Michaelson, Jacob J.
Moll, Kristina
Monaco, Anthnony P.
Morgan, Angela T.
Noethen, Markus M.
Pausova, Zdenka
Pennell, Craig E.
Pennington, Bruce F.
Price, Kaitlyn M.
Rajagopal, Veera M.
Ramus, Franck
Richer, Louis
Simpson, Nuala H.
Smith, Shelley
Snowling, Margaret J.
Stein, John
Strug, Lisa J.
Talcott, Joel B.
Tiemeier, Henning
van der Schroeff, Marc M.P.
Verhoef, Ellen
Watkins, Kate E.
Wilkinson, Margaret
Wright, Margaret J.
Barr, Cathy L.
Boomsma, Dorret I.
Carreiras, Manuel
Franken, Marie-Christine J.
Gruen, Jeffrey R.
Luciano, Michelle
Müller-Myhsok, Bertram
Newbury, Dianne F.
Olson, Richard K.
Paracchini, Silvia
Paus, Tomas
Plomin, Robert
Reilly, Sheena
Schulte-Körne, Gerd
Tomblin, Bruce
van Bergen, Elsje
Whitehouse, Andrew J.O.
Willcutt, Erik G.
St Pourcain, Beate
Francks, Clyde
Fisher, Simon E.

Oxford Brookes departments

Department of Biological and Medical Sciences


Year of publication: 2022
Date of RADAR deposit: 2022-07-21

Creative Commons License This work is licensed under a Creative Commons Attribution 4.0 International License

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