1. Genome-wide screening for DNA variants associated with reading and language traits.
- Author
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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.
- Subjects
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GENOMES , *GENETIC testing , *READING ability testing , *LANGUAGE ability , *QUANTITATIVE research , *POPULATION biology - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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