Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Détails
Télécharger: 35998220_BIB_ED661626AFE7.pdf (1855.48 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_ED661626AFE7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Périodique
Proceedings of the National Academy of Sciences of the United States of America
ISSN
1091-6490 (Electronic)
ISSN-L
0027-8424
Statut éditorial
Publié
Date de publication
30/08/2022
Peer-reviewed
Oui
Volume
119
Numéro
35
Pages
e2202764119
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
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</sup> ) 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.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Genetic Loci, Genome-Wide Association Study, Humans, Individuality, Language, Polymorphism, Single Nucleotide, Reading, Speech, Young Adult, genome-wide association study, language, meta-analysis, reading
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/09/2022 12:25
Dernière modification de la notice
23/01/2024 7:36