Association of the ROBO1 gene with reading disabilities in a family‐based analysis. (20th March 2014)

• Record Type: Journal Article
• Authors: Tran, C.; Wigg, K. G.; Zhang, K.; Cate‐Carter, T. D.; Kerr, E.; Field, L. L.; Kaplan, B. J.; Lovett, M. W.; Barr, C. L.
• Is Part Of: Genes, brain, and behavior. Volume 13:Number 4(2014:Jun.)
• Page Start: 430
• Page End: 438
• Publication Date: 2014-03-20
• Subjects: Behavior genetics -- Periodicals; Neurogenetics -- Periodicals; 616.8
• DOI: 10.1111/gbb.12126
• Languages: English
• ISSNs: 1601-1848

Abstract

<abstract abstract-type="main" id="gbb12126-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="gbb12126-para-0001"> <bold>Linkage studies have identified a locus on chromosome 3 as reading disabilities (RD) and speech and sound disorder (SSD) susceptibility region, with both RD and SSD sharing similar phonological processing and phonological memory difficulties. One gene in this region, <italic>roundabout homolog 1</italic> (<italic>ROBO1</italic>), has been indicated as a RD candidate and has shown significant association with measures of phonological memory in a population‐based sample. In this study, we conducted a family‐based association analysis using two independent samples collected in Toronto and Calgary, Canada. Using the two samples, we tested for association between <italic>ROBO1</italic> single nucleotide polymorphisms (SNPs) and RD, along with quantitative measures for reading, spelling and phonological memory. One SNP, rs331142, which was selected based on its correlation with <italic>ROBO1</italic> expression in brain tissue, was found to be significantly associated with RD in the Toronto sample with over transmission of the minor C allele (<italic>P</italic> = 0.001), correlated with low expression. This SNP is located ∼200 bp from a putative enhancer and results for a marker within the enhancer, rs12495133, showed evidence for association with the same allele in both the Toronto and Calgary samples (<italic>P</italic> = 0.005 and <italic>P</italic> = 0.007). These results support previous associations between <italic>ROBO1</italic> and RD, as well as correlation with low gene expression, suggesting a possible mechanism of risk conferred by this gene.</bold> </p> </abstract>