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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Autores principales: 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
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/d38c6d042b0447528a6e9bfb3a1cde4b
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Genetics
QH426-470
spellingShingle 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
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