ORCID Profile
0000-0003-3390-9993
Current Organisation
University of Oxford
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Publisher: Springer Science and Business Media LLC
Date: 22-04-2009
DOI: 10.1038/EJHG.2009.47
Publisher: Springer Science and Business Media LLC
Date: 18-02-2007
DOI: 10.1038/NG1985
Publisher: Springer Science and Business Media LLC
Date: 12-11-2008
Publisher: Springer Science and Business Media LLC
Date: 02-05-2012
DOI: 10.1038/EJHG.2012.73
Publisher: Springer Science and Business Media LLC
Date: 14-10-2011
Publisher: Cold Spring Harbor Laboratory
Date: 04-11-2021
DOI: 10.1101/2021.11.04.466897
Abstract: The use of spoken and written language is a capacity that is unique to humans. In idual 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 relevant genetic architecture is complex, heterogeneous, and multifactorial, and yet to be investigated with well-powered studies. Here, we present a multicohort genome-wide association study (GWAS) of five traits assessed in idually using psychometric measures: word reading, nonword reading, spelling, phoneme awareness, and nonword repetition, with total s le sizes ranging from 13,633 to 33,959 participants aged 5-26 years (12,411 to 27,180 for those with European ancestry, defined by principal component analyses). We identified a genome-wide significant association with word reading (rs11208009, p=1.098 × 10 −8 ) independent of known loci associated with intelligence or educational attainment. All five reading-/language-related traits had robust SNP-heritability estimates (0.13–0.26), and genetic correlations between them were modest to high. Using genomic structural equation modelling, we found evidence for a shared genetic factor explaining the majority of variation in word and nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence and educational attainment. A multivariate GWAS was performed to jointly analyse word and nonword reading, spelling, and phoneme awareness, maximizing power for follow-up investigation. Genetic correlation analysis of multivariate GWAS results with neuroimaging traits identified association with cortical surface area of the banks of the left superior temporal sulcus, a brain region with known links to processing of spoken and written language. Analysis of evolutionary annotations on the lineage that led to modern humans showed enriched heritability in regions depleted of Neanderthal variants. Together, these results provide new avenues for deciphering the biological underpinnings of these uniquely human traits.
Publisher: Springer Science and Business Media LLC
Date: 28-04-2009
DOI: 10.1038/MP.2009.34
Publisher: Wiley
Date: 29-08-2014
DOI: 10.1111/GBB.12158
Publisher: Wiley
Date: 04-2015
DOI: 10.1111/GBB.12213
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Nuala Simpson.