A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1

作者：Tran C; Gagnon F; Wigg K G; Feng Y; Gomez L; Cate Carter T D; Kerr E N; Field L L; Kaplan B J; Lovett M W; Barr C L^*

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2013, 162B(2): 146-156.

DOI：10.1002/ajmg.b.32123

• dyslexia
• chromosome 15q
• EKN1
• genetics

Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (DYX1C1) 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 We performed a literature review and meta-analysis of the 3G/A and 1249G/T polymorphisms, including new unpublished data from two family-based samples.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 DYX1C1 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 DYX1C1 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.

• 出版日期2013-3