A family‐based association analysis and meta‐analysis of the reading disabilities candidate gene <i>DYX1C1</i>

<jats:title>Abstract</jats:title><jats:p>Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (<jats:italic>DYX1C1</jats:italic>) on chromosome 15q21 was originally proposed as a candidate gene with two potentially functional polymorphisms at the −3G/A and 1249G/T positions showing association with RD. However, subsequent studies have yielded mixed results. We performed a literature review and meta‐analysis of the −3G/A and 1249G/T polymorphisms, including new unpublished data from two family‐based samples. Ten markers in <jats:italic>DYX1C1</jats:italic> were genotyped in the two independently ascertained samples. Single marker and −3G/A:1249G/T haplotype analyses were performed for RD in both samples, and quantitative trait analyses using standardized reading‐related measures was performed in one of the samples. For the meta‐analysis, we used a random‐effects model to summarize studies that tested for association between −3G/A or 1249G/T and RD. No significant association was found between the <jats:italic>DYX1C1</jats:italic> SNPs and RD or any of the reading‐related measures tested after correction for the number of tests performed. The previously reported risk haplotype (−3A:1249T) was not biased in transmission. A total of 9 and 10 study samples were included in the meta‐analysis of the −3G/A and 1249G/T polymorphisms, respectively. Neither polymorphism reached statistical significance, but the heterogeneity for the 1249G/T polymorphism was high. The results of this study do not provide evidence for association between the putatively functional SNPs −3G/A and 1249G/T and RD. © 2013 Wiley Periodicals, Inc.</jats:p>