1. Association between genes regulating neural pathways for quantitative traits of speech and language disorders
- Author
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Yvonne Wren, Jessica Tag, Panos Roussos, Catherine M. Stein, Sudha K. Iyengar, Penelope Benchek, Barbara A. Lewis, H. Gerry Taylor, Gabrielle Miller, Barbara Truitt, Wen Zhang, Robert P. Igo, E. Ricky Chan, Lisa Freebairn, Michael D. Osterman, and Heather Voss-Hoynes
- Subjects
0301 basic medicine ,Longitudinal study ,Vocabulary ,media_common.quotation_subject ,Genome-wide association study ,QH426-470 ,Genome-wide association studies ,Article ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,Phonological awareness ,Reading (process) ,Genetics ,Association (psychology) ,Molecular Biology ,Genetics (clinical) ,media_common ,Spelling ,030104 developmental biology ,Differentially methylated regions ,Medicine ,Psychiatric disorders ,Psychology ,030217 neurology & neurosurgery - 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 −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.
- Published
- 2021
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