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

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

Research output: Contribution to journalArticlepeer-review


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
Number of pages16
JournalGenes, Brain and Behavior
Issue number7
Publication statusPublished - Sep 2014


  • pleiotropic variants
  • developmental dyslexia
  • GWAS
  • language
  • meta-analysis
  • reading
  • reading disability
  • SLIC
  • specific language impairment

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