A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia
A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia
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DOI：
10.1038/sj.ejhg.5201356
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发表时间：
2005-04-01
影响因子：
5.2
通讯作者：
Molteni, M
中科院分区：
文献类型：
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作者：
Marino, C;Giorda, R;Molteni, M
我们应用了一个以家庭为基础的协会的方法来调查的作用，DYX 1C 1基因的染色体15 q作为候选基因发育性阅读障碍（DD）的158个家庭包含至少一个儿童阅读障碍。对DYX 1C 1基因第2和第10外显子进行了直接测序，共发现8个单核苷酸多态性（SNPs），其中3个（-3G>A，1249 G>T，1259 C>G）适合于遗传分析。我们进行了单和多标记关联分析与DD作为一个分类性状的FBAT版本1.4和TRANSMIT版本2.5.4程序。我们的样本有至少80%的能力检测选定的表型和信息多态性之间的关联在5%的显着性水平。分类分析的结果并不支持DYX 1C 1基因变异体在阅读障碍患者及其亲属中的参与。定量和多标记分析，这提供了更大的权力来检测一个较小的影响位点，始终产生不显着的结果。虽然D1 X1 C1是DD的一个很好的候选基因，但我们无法复制DYX 1C 1基因和DD之间的原始发现，可能是由于遗传异质性。
We applied a family-based association approach to investigate the role of the DYX1C1 gene on chromosome 15q as a candidate gene for developmental dyslexia ( DD) to 158 families containing at least one dyslexic child. We directly sequenced exons 2 and 10 of the DYX1C1 gene and found eight single nucleotide polymorphism ( SNPs), three of which ( - 3G>A, 1249 G>T, 1259 C>G) were suitable for the genetic analyses. We performed single- and multimarker association analyses with DD as a categorical trait by FBAT version 1.4 and TRANSMIT version 2.5.4 programs. Our sample had a power of at least 80% to detect an association between the selected phenotypes and the informative polymorphisms at a significance level of 5%. The results of the categorical analyses did not support the involvement of the DYX1C1 gene variants in this sample of dyslexics and their relatives. Quantitative and multimarker analyses, which provide greater power to detect loci with a minor effect, consistently yielded nonsignificant results. While D1X1C1 is a good candidate gene for DD, we were unable to replicate the original findings between DYX1C1 gene and DD, perhaps due to genetic heterogeneity.