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dc.contributor.authorScerri, Thomas S.
dc.contributor.authorParacchini, Silvia
dc.contributor.authorMorris, Andrew
dc.contributor.authorMacPhie, I. Laurence
dc.contributor.authorTalcott, Joel
dc.contributor.authorStein, John
dc.contributor.authorSmith, Shelley D.
dc.contributor.authorPennington, Bruce F.
dc.contributor.authorOlson, Richard K.
dc.contributor.authorDeFries, John C.
dc.contributor.authorMonaco, Anthony P.
dc.identifier.citationScerri , T S , Paracchini , S , Morris , A , MacPhie , I L , Talcott , J , Stein , J , Smith , S D , Pennington , B F , Olson , R K , DeFries , J C & Monaco , A P 2010 , ' Identification of candidate genes for dyslexia susceptibility on chromosome 18 ' , PLoS ONE , vol. 5 , no. 10 , e13712 .
dc.identifier.otherPURE: 15870335
dc.identifier.otherPURE UUID: 0525c821-1c92-40e6-a6fa-c52ee193111e
dc.identifier.otherWOS: 000283573800012
dc.identifier.otherScopus: 78149463268
dc.identifier.otherORCID: /0000-0001-9934-8602/work/60428061
dc.description.abstractBackground: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s) conferring susceptibility by a two stage strategy of linkage and association analysis. Methodology/Principal Findings: Linkage analysis: 264 UK families and 155 US families each containing at least one child diagnosed with dyslexia were genotyped with a dense set of microsatellite markers on chromosome 18. Association analysis: Using a discovery sample of 187 UK families, nearly 3000 SNPs were genotyped across the chromosome 18 dyslexia susceptibility candidate region. Following association analysis, the top ranking SNPs were then genotyped in the remaining samples. The linkage analysis revealed a broad signal that spans approximately 40 Mb from 18p11.2 to 18q12.2. Following the association analysis and subsequent replication attempts, we observed consistent association with the same SNPs in three genes; melanocortin 5 receptor (MC5R), dymeclin (DYM) and neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L). Conclusions: Along with already published biological evidence, MC5R, DYM and NEDD4L make attractive candidates for dyslexia susceptibility genes. However, further replication and functional studies are still required.
dc.relation.ispartofPLoS ONEen
dc.rights© 2010 Scerri et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en
dc.subjectMultiple regression analysisen
dc.subjectQuantitive trait locusen
dc.subjectMultilocus genotype dataen
dc.subjectGenome-wide associationen
dc.subjectMSH-ACTH 4-10en
dc.subjectDevelopmental dyslexiaen
dc.subjectReading disabilityen
dc.subjectLinkage analysesen
dc.subjectBlood pressureen
dc.subjectEnvironmental influencesen
dc.subjectQH426 Geneticsen
dc.titleIdentification of candidate genes for dyslexia susceptibility on chromosome 18en
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews. School of Medicineen
dc.contributor.institutionUniversity of St Andrews. Biomedical Sciences Research Complexen
dc.description.statusPeer revieweden

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