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

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., Luciano, M., Evans, D. M., Bates, T. C., Stein, J. F., Talcott, J. B., Monaco, A. P., Paracchini, S., Francks, C. and Fisher, S. E. (2014) Genome-wide screening for DNA variants associated with reading and language traits. Genes, Brain and Behavior, 13 7: 686-701. doi:10.1111/gbb.12158

Author 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.
Luciano, M.
Evans, D. M.
Bates, T. C.
Stein, J. F.
Talcott, J. B.
Monaco, A. P.
Paracchini, S.
Francks, C.
Fisher, S. E.
Title Genome-wide screening for DNA variants associated with reading and language traits
Journal name Genes, Brain and Behavior   Check publisher's open access policy
ISSN 1601-1848
Publication date 2014-09-01
Year available 2014
Sub-type Article (original research)
DOI 10.1111/gbb.12158
Volume 13
Issue 7
Start page 686
End page 701
Total pages 16
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Publishing
Language eng
Formatted 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. Genome-wide association scan meta-analysis for reading and language ability.
Keyword Pleiotropic variants
Developmental dyslexia
Reading disability
Specific language impairment
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
UQ Diamantina Institute Publications
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