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基因DCDC2在德国诵读困难者中的作用。

The role of gene DCDC2 in German dyslexics.

作者信息

Wilcke A, Weissfuss J, Kirsten H, Wolfram G, Boltze J, Ahnert P

机构信息

Fraunhofer-Institute for Cell Therapy and Immunology, Perlickstr. 1, 04103 Leipzig, Germany.

出版信息

Ann Dyslexia. 2009 Jun;59(1):1-11. doi: 10.1007/s11881-008-0020-7. Epub 2009 Feb 24.

Abstract

Dyslexia is a complex reading and writing disorder with a strong genetic component. In a German case-control cohort, we studied the influence of the suspected dyslexia-associated gene DCDC2. For the first time in a German cohort, we describe association of a 2445 basepair deletion, first identified in an American study. Evidence of association for three DCDC2 single nucleotide polymorphisms (rs807724, rs793862, rs807701), previously identified in German or American cohorts, was replicated. A haplotype of these polymorphisms showed evidence for association as well. Thus, our data further corroborate association of DCDC2 with dyslexia. Analysis of functional subgroups suggests association of investigated DCDC2 variants mainly with nondysphonetic, nonsevere, but probably dyseidetic (surface) dyslexia. Based on the presumed function of DCDC2, our findings point to a role of impaired neuronal migration in the etiology of the disease.

摘要

阅读障碍是一种具有强烈遗传因素的复杂读写障碍。在一个德国病例对照队列中,我们研究了疑似与阅读障碍相关的基因DCDC2的影响。在德国队列中,我们首次描述了一个2445个碱基对缺失的关联,该缺失最初是在美国一项研究中发现的。先前在德国或美国队列中鉴定出的三个DCDC2单核苷酸多态性(rs807724、rs793862、rs807701)的关联证据得到了重复验证。这些多态性的一个单倍型也显示出关联证据。因此,我们的数据进一步证实了DCDC2与阅读障碍的关联。对功能亚组的分析表明,所研究的DCDC2变体主要与非语音性、非严重但可能是表象性(表层)阅读障碍相关。基于DCDC2的推测功能,我们的发现指出神经元迁移受损在该疾病病因学中的作用。

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