Association between genes regulating neural pathways for quantitative traits of speech and language disorders
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)...
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2021
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oai:doaj.org-article:d38c6d042b0447528a6e9bfb3a1cde4b2021-12-02T16:25:01ZAssociation between genes regulating neural pathways for quantitative traits of speech and language disorders10.1038/s41525-021-00225-52056-7944https://doaj.org/article/d38c6d042b0447528a6e9bfb3a1cde4b2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00225-5https://doaj.org/toc/2056-7944Abstract 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.Penelope BenchekRobert P. IgoHeather Voss-HoynesYvonne WrenGabrielle MillerBarbara TruittWen ZhangMichael OstermanLisa FreebairnJessica TagH. Gerry TaylorE. Ricky ChanPanos RoussosBarbara LewisCatherine M. SteinSudha K. IyengarNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021) |
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Medicine R Genetics QH426-470 |
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Medicine R Genetics QH426-470 Penelope Benchek Robert P. Igo Heather Voss-Hoynes Yvonne Wren Gabrielle Miller Barbara Truitt Wen Zhang Michael Osterman Lisa Freebairn Jessica Tag H. Gerry Taylor E. Ricky Chan Panos Roussos Barbara Lewis Catherine M. Stein Sudha K. Iyengar Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
description |
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. |
format |
article |
author |
Penelope Benchek Robert P. Igo Heather Voss-Hoynes Yvonne Wren Gabrielle Miller Barbara Truitt Wen Zhang Michael Osterman Lisa Freebairn Jessica Tag H. Gerry Taylor E. Ricky Chan Panos Roussos Barbara Lewis Catherine M. Stein Sudha K. Iyengar |
author_facet |
Penelope Benchek Robert P. Igo Heather Voss-Hoynes Yvonne Wren Gabrielle Miller Barbara Truitt Wen Zhang Michael Osterman Lisa Freebairn Jessica Tag H. Gerry Taylor E. Ricky Chan Panos Roussos Barbara Lewis Catherine M. Stein Sudha K. Iyengar |
author_sort |
Penelope Benchek |
title |
Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
title_short |
Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
title_full |
Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
title_fullStr |
Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
title_full_unstemmed |
Association between genes regulating neural pathways for quantitative traits of speech and language disorders |
title_sort |
association between genes regulating neural pathways for quantitative traits of speech and language disorders |
publisher |
Nature Portfolio |
publishDate |
2021 |
url |
https://doaj.org/article/d38c6d042b0447528a6e9bfb3a1cde4b |
work_keys_str_mv |
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