Decades of family and twin studies have revealed substantial genetic components contributing to individual variation in reading- and language-related traits as well as to susceptibility to associated disorders ( 2). Such skills have become fundamental for day-to-day life in modern society. The processing and production of complex spoken and written language are capacities that appear to be distinct to our species ( 1). Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. 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. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. 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. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. 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.
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. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. 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 use of spoken and written language is a fundamental human capacity. Willcutt, Beate St Pourcain, Clyde Francks, and Simon E. Bruce Tomblin, Elsje van Bergen, Andrew J. Olson, Silvia Paracchini, Tomáš Paus, Robert Plomin, Sheena Reilly, Gerd Schulte-Körne, J. Gruen, Michelle Luciano, Bertram Müller-Myhsok, Dianne F. Boomsma, Manuel Carreiras, Marie-Christine J. Watkins, Margaret Wilkinson, Margaret J. van der Schroeff, Ellen Verhoef, Kate E. Rajagopal, Franck Ramus, Louis Richer, Nuala H. Martin, Angela Martinelli, Urs Maurer, Jacob J. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Juha Kere, Elizabeth N. DeFries, Jean-François Démonet, Ditte Demontis, Yu Feng, Scott D. Børglum, Thomas Bourgeron, Daniel Brandeis, Fabiola Ceroni, Valéria Csépe, Philip S.
Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Anders D. Gerritse, Barbara Molz, Gökberk Alagöz, Alessandro Gialluisi, Filippo Abbondanza, Kaili Rimfeld, Marjolein van Donkelaar, Zhijie Liao, Philip R. Allegrini, Chin Yang Shapland, Gu Zhu, Karen G. Else Eising, Nazanin Mirza-Schreiber, Eveline L.
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