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发育性阅读障碍核心家庭中 DCDC2 和 DYX1C1 基因对语言和数学特征的多效性影响。

Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia.

机构信息

Department of Child Psychiatry, Scientific Institute Eugenio Medea, Via don Luigi Monza, 20, 23842 Bosisio Parini, LC, Italy.

出版信息

Behav Genet. 2011 Jan;41(1):67-76. doi: 10.1007/s10519-010-9412-7. Epub 2010 Nov 3.

Abstract

Converging evidence indicates that developmental problems in oral language and mathematics can predate or co-occur with developmental dyslexia (DD). Substantial genetic correlations have been found between language, mathematics and reading traits, independent of the method of sampling. We tested for association of variants of two DD susceptibility genes, DCDC2 and DYX1C1, in nuclear families ascertained through a proband with DD using concurrent measurements of language and mathematics in both probands and siblings by the Quantitative Transmission Disequilibrium Test. Evidence for significant associations was found between DCDC2 and 'Numerical Facts' (p value = 0.02, with 85 informative families, genetic effect = 0.57) and between 'Mental Calculation' and DYX1C1 markers -3GA (p value = 0.05, with 40 informative families, genetic effect = -0.67) and 1249GT (p value = 0.02, with 49 informative families, genetic effect = -0.65). No statistically significant associations were found between DCDC2 or DYX1C1 and language phenotypes. Both DCDC2 and DYX1C1 DD susceptibility genes appear to have a pleiotropic role on mathematics but not language phenotypes.

摘要

越来越多的证据表明,口语和数学方面的发育问题可能早于或与发育性阅读障碍(DD)同时出现。语言、数学和阅读特征之间存在大量的遗传相关性,与抽样方法无关。我们通过对一名患有 DD 的患者进行核家庭的确定,使用定量传递不平衡测试(QTDT)同时对患者和兄弟姐妹进行语言和数学测量,测试了两个 DD 易感性基因 DCDC2 和 DYX1C1 的变体与这些特征的关联。在 DCDC2 与“数值事实”(p 值=0.02,有 85 个信息丰富的家庭,遗传效应=0.57)之间以及在“心算”与 DYX1C1 标记-3GA(p 值=0.05,有 40 个信息丰富的家庭,遗传效应=-0.67)和 1249GT(p 值=0.02,有 49 个信息丰富的家庭,遗传效应=-0.65)之间发现了显著的关联。在 DCDC2 或 DYX1C1 与语言表型之间未发现具有统计学意义的关联。DCDC2 和 DYX1C1 这两个 DD 易感性基因似乎对数学表型具有多效性作用,但对语言表型没有。

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