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dc.contributor.authorGialluisi, Alessandro
dc.contributor.authorNewbury, Dianne F
dc.contributor.authorWilcutt, Erik G
dc.contributor.authorOlson, Richard K
dc.contributor.authorDeFries, John C
dc.contributor.authorBrandler, William M
dc.contributor.authorPennington, Bruce F
dc.contributor.authorSmith, Shelley D
dc.contributor.authorScerri, Thomas S
dc.contributor.authorSimpson, Nuala H
dc.contributor.authorThe SLI Consortium
dc.contributor.authorLuciano, Michelle
dc.contributor.authorEvans, David M
dc.contributor.authorBates, Timothy C
dc.contributor.authorStein, John F
dc.contributor.authorTalcott, Joel B
dc.contributor.authorMonaco, Anthony P
dc.contributor.authorParacchini, Silvia
dc.contributor.authorFrancks, Clyde
dc.contributor.authorFisher, Simon E
dc.identifier.citationGialluisi , A , Newbury , D F , Wilcutt , E G , Olson , R K , DeFries , J C , Brandler , W M , Pennington , B F , Smith , S D , Scerri , T S , Simpson , N H , The SLI Consortium , Luciano , M , Evans , D M , Bates , T C , Stein , J F , Talcott , J B , Monaco , A P , Paracchini , S , Francks , C & Fisher , S E 2014 , ' Genome-wide screening for DNA variants associated with reading and language traits ' , Genes, Brain and Behavior , vol. 13 , no. 7 , pp. 686-701 .
dc.identifier.otherPURE: 138522984
dc.identifier.otherPURE UUID: b06b6385-2038-49d3-b718-caa6a2e40a5d
dc.identifier.otherPubMed: 25065397
dc.identifier.otherScopus: 84907811445
dc.identifier.otherORCID: /0000-0001-9934-8602/work/60428072
dc.identifier.otherWOS: 000342823600012
dc.descriptionThis research was funded by: Max Planck Society, the University of St Andrews - Grant Number: 018696, US National Institutes of Health - Grant Number: P50 HD027802, Wellcome Trust - Grant Number: 090532/Z/09/Z, and Medical Research Council Hub Grant Grant Number: G0900747 91070en
dc.description.abstractReading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome‐wide association scan (GWAS) meta‐analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading‐ and language‐related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P ≈ 10–7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on‐going international efforts to identify genes contributing to reading and language skills.
dc.relation.ispartofGenes, Brain and Behavioren
dc.rightsCopyright © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License (, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.en
dc.subjectPleiotropic variantsen
dc.subjectDevelopmental dyslexiaen
dc.subjectReading disabilityen
dc.subjectSpecific language impairmenten
dc.subjectBF Psychologyen
dc.subjectQH426 Geneticsen
dc.titleGenome-wide screening for DNA variants associated with reading and language traitsen
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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