Skip to content

Research at St Andrews

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

Research output: Contribution to journalArticle


Open Access permissions



Alessandro Gialluisi, Dianne F Newbury, Erik G Wilcutt, Richard K Olson, John C DeFries, William M Brandler, Bruce F Pennington, Shelley D Smith, Thomas S Scerri, Nuala H Simpson, Michelle Luciano, David M Evans, Timothy C Bates, John F Stein, Joel B Talcott, Anthony P Monaco, Silvia Paracchini, Clyde Francks, Simon E Fisher, The SLI Consortium

School/Research organisations


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 characterised 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.


Original languageEnglish
Pages (from-to)686-701
JournalGenes, Brain and Behavior
Issue number7
Early online date29 Aug 2014
Publication statusPublished - Sep 2014

    Research areas

  • Pleiotropic variants, CLDRC, Developmental dyslexia, GWAS, Language, Meta-analysis, Reading, Reading disability, SLIC, Specific language impairment

Discover related content
Find related publications, people, projects and more using interactive charts.

View graph of relations

Related by author

  1. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with Complex I impairments and altered pyruvate metabolism

    Diquigiovanni, C., Bergamini, C., Diaz, R., Liparulo, I., Bianco, F., Masin, L., Baldassarro, V. A., Rizzardi, N., Tranchina, A., Bruscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S. & Bonora, E., 1 Oct 2019, In : FASEB Journal. 33, 10, p. 11284-11302 19 p.

    Research output: Contribution to journalArticle

  2. Genomic imprinting as a window into human language evolution

    Hitchcock, T., Paracchini, S. & Gardner, A., Jun 2019, In : BioEssays. 41, 6, 11 p., 1800212.

    Research output: Contribution to journalArticle

  3. The prevalence of left-handedness: Five meta-analyses of 200 studies totaling 2,396,170 individuals

    Papadatou-Pastou, M., Martin, M., Munafò, M. R., Ntolka, E., Ocklenburg, S. & Paracchini, S., 23 Apr 2019, In : PsyArxiv. 120 p.

    Research output: Contribution to journalArticle

  4. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

    Gialluisi, A., Andlauer, T. F. M., Mirza-schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., Defries, J. C., Olson, R. K., Smith, S. D. & 25 others, Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-myhsok, B. & Schulte-körne, G., 11 Feb 2019, In : Translational Psychiatry. 9, 15 p., 77.

    Research output: Contribution to journalArticle

Related by journal

  1. Lack of replication for the myosin-18B association with mathematical ability in independent cohorts

    Pettigrew, K. A., Fajutrao Valles, S. F., Moll, K., Northstone, K., Ring, S., Pennell, C., Wang, C., Leavett, R., Hayiou-Thomas, M. E., Thompson, P., Simpson, N. H., Fisher, S. E., Whitehouse, A. J. O., Snowling, M. J., Newbury, D. F., Paracchini, S. & SLI Consortium, 23 Apr 2015, In : Genes, Brain and Behavior. 14, 4, p. 369-376

    Research output: Contribution to journalArticle

  2. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment

    Nudel, R., Simpson, N. H., Baird, G., O'Hare, A., Conti-Ramsden, G., Bolton, P. F., Hennessy, E. R., Ring, S. M., Smith, G. D., Francks, C., Paracchini, S., Monaco, A. P., Fisher, S. E., Newbury, D. F. & The SLI Consortium, Apr 2014, In : Genes, Brain and Behavior. 13, 4, p. 418–429

    Research output: Contribution to journalArticle

  3. Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population

    Paracchini, S., Ang, Q. W., Stanley, F. J., Monaco, A. P., Pennell, C. E. & Whitehouse, A. J. O., Mar 2011, In : Genes, Brain and Behavior. 10, 2, p. 158-165 8 p.

    Research output: Contribution to journalArticle

ID: 138522984