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Identification of candidate genes for dyslexia susceptibility on chromosome 18

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Date
28/10/2010
Author
Scerri, Thomas S.
Paracchini, Silvia
Morris, Andrew
MacPhie, I. Laurence
Talcott, Joel
Stein, John
Smith, Shelley D.
Pennington, Bruce F.
Olson, Richard K.
DeFries, John C.
Monaco, Anthony P.
Keywords
Multiple regression analysis
Quantitive trait locus
Multilocus genotype data
Genome-wide association
MSH-ACTH 4-10
Developmental dyslexia
Reading disability
Linkage analyses
Blood pressure
Environmental influences
QH426 Genetics
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Abstract
Background: 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.
Citation
Scerri , 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 . https://doi.org/10.1371/journal.pone.0013712
Publication
PLoS ONE
Status
Peer reviewed
DOI
https://doi.org/10.1371/journal.pone.0013712
ISSN
1932-6203
Type
Journal article
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.
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  • University of St Andrews Research
URI
http://hdl.handle.net/10023/4172

Items in the St Andrews Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.

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