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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.

Original publication




Journal article


Genes Brain Behav

Publication Date





686 - 701


CLDRC, GWAS, SLIC, developmental dyslexia, language, meta-analysis, pleiotropic variants, reading, reading disability, specific language impairment, Adolescent, Case-Control Studies, Child, Dyslexia, Female, Genetic Pleiotropy, Genome, Human, Genome-Wide Association Study, Humans, Language Tests, Male, Neoplasm Proteins, Polymorphism, Single Nucleotide, RNA-Binding Proteins, Repressor Proteins