Association between genes regulating neural pathways for quantitative traits of speech and language disorders.
NPJ Genom Med
; 6(1): 64, 2021 Jul 27.
Article
in En
| MEDLINE
| ID: mdl-34315907
ABSTRACT
Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p < 10-8) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural-genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Language:
En
Journal:
NPJ Genom Med
Year:
2021
Document type:
Article
Affiliation country: