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.
The use of spoken and written language is a capacity that is unique to humans. 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 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 individually using psychometric measures: word reading, nonword reading, spelling, phoneme awareness, and nonword repetition, with total sample 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.
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To contain the COVID-19 pandemic schools have been closed in many countries. Children stayed at home and were assisted by their parents with their schoolwork. Evidently, homeschooling puts extra demands on parents. We presumed that parents’ sense of self-efficacy in teaching would play a key role in how they cope with this extra task of homeschooling. In particular, we hypothesized that parental characteristics (social-economic status (SES) and Stress) and social-contextual factors (home chaos; school support) would contribute to parents’ teaching self-efficacy and that, in turn, a lower efficacy would result in more parent-child conflicts during home schooling. Participants were 173 mothers of children in kindergarten or early elementary schools, who provided information for one of their children about interpersonal conflicts around schoolwork before and during school closure. Additionally, they reported on their self-efficacy in teaching, perceived stress during lockdown, home chaos, and school support. Path analyses indicated that mothers’ perceived stress and household chaos were associated with a lower sense of self-efficacy in teaching, whereas school support, but not family SES, was related to a higher level of teaching self-efficacy. Higher levels of self-efficacy beliefs, in turn, were associated with a lower degree of parent–child conflict during schoolwork, even after controlling for prior levels of conflict. We discuss how the results of this study might be used to foster parents’ self-efficacy in teaching and thereby decrease the amount of parent-child conflict during parents’ support with schoolwork.
A Cogmed working memory training was done aimed to enhance intelligence in a group of adolescents at risk for school dropout and with below average IQ through an increase in working memory capacity. The adolescents came from poor families and 84% came from minority groups. The effect of the Cogmed working memory training was tested in a randomized control trial with a reading comprehension and a no-training control group. We took care that the amount of coaching to ensure treatment integrity was similar in both training groups. The trainings took five weeks but were followed two months later by a 1-week booster. Participants were 64 students (42 boys and 22 girls) with a mean age of 14,6 years (SD ϭ 16.5 months). An intermediate-test was done after the 5 week training and a posttest at the end of the year, 3 months after the booster. Measures of working memory capacity were involved at pre-, intermediate and posttest. IQ and school achievement were included at pretest and posttest. We found short but no long-term effects on working memory capacity. Surprisingly, at posttest both trainings had an effect on IQ and school achievement in the absence of an increase in working memory capacity. We argue that these results might be due to more general aspects of these interventions, in particular the coaching and support that were provided to the students.
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