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Genome-wide screening for DNA variants associated with reading and language traits

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Gialluisi_2014_GBB_Genome_CC.pdf (967.3Kb)
Date
15/09/2014
Author
Gialluisi, Alessandro
Newbury, Dianne F
Wilcutt, Erik G
Olson, Richard K
DeFries, John C
Brandler, William M
Pennington, Bruce F
Smith, Shelley D
Scerri, Thomas S
Simpson, Nuala H
The SLI Consortium
Luciano, Michelle
Evans, David M
Bates, Timothy C
Stein, John F
Talcott, Joel B
Monaco, Anthony P
Paracchini, Silvia
Francks, Clyde
Fisher, Simon E
Keywords
Pleiotropic variants
CLDRC
Developmental dyslexia
GWAS
Language
Meta-analysis
Reading
Reading disability
SLIC
Specific language impairment
BF Psychology
QH426 Genetics
BDC
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Abstract
Reading 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.
Citation
Gialluisi , 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 . https://doi.org/10.1111/gbb.12158
Publication
Genes, Brain and Behavior
Status
Peer reviewed
DOI
https://doi.org/10.1111/gbb.12158
ISSN
1601-1848
Type
Journal article
Rights
Copyright © 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 (http://creativecommons.org/licenses/by/3.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Description
This 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 91070
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  • University of St Andrews Research
URL
https://onlinelibrary.wiley.com/doi/full/10.1111/gbb.12158#support-information-section
URI
http://hdl.handle.net/10023/6497

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