Examining Procedural Learning and Corticostriatal Pathways for Individual Differences in Language: Testing Endophenotypes of DRD2/ANKK1.
Examining Procedural Learning and Corticostriatal Pathways for Individual Differences in Language: Testing Endophenotypes of DRD2/ANKK1.
复制标题
检查程序学习和皮质纹状体通路的语言个体差异：测试 DRD2/ANKK1 的内表型。
DOI：
10.1080/23273798.2015.1089359
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Tomblin,JBruce
中科院分区：
文献类型：
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作者：
Lee,JoannaC;Mueller,KathrynL;Tomblin,JBruce
该研究的目的是探索多巴胺能系统的遗传变异是否与发展性语言障碍(DLI)患者的程序性学习和皮质纹状体通路有关。我们将这两个系统视为内在表型，并假设它们将比语言表型本身更敏感地反映遗传效应。因此，我们对DRD2/ANKK1中的两个单核苷酸多态进行了基因分型，并测试了它们与语言表型和内在表型的相关性。结果显示，DLI患者的程序性学习能力较差，基底节结构异常。DRD2/ANKK1基因变异与程序性学习和尾状核微结构差异有关。语言表型与DRD2/ANKK1基因多态性的相关性不显著，但语言表型与内表型显著相关。我们建议程序性学习和皮质纹状体通路作为有效的内表型来辅助分子遗传学研究寻找易患DLI的基因。
The aim was to explore whether genetic variation in the dopaminergic system is associated with procedural learning and the corticostriatal pathways in individuals with developmental language impairment (DLI). We viewed these two systems as endophenotypes and hypothesised that they would be more sensitive indicators of genetic effects than the language phenotype itself. Thus, we genotyped two single nucleotide polymorphisms in DRD2/ANKK1, and tested for their associations to the language phenotype and the endophenotypes. Results showed that individuals with DLI revealed poor procedural learning abilities and abnormal structures of the basal ganglia. Genetic variation in DRD2/ANKK1 was associated with procedural learning and microstructural differences of the caudate nucleus. The association of the language phenotype with DRD2/ANKK1 polymorphisms was non-significant, but the language phenotype was significantly associated with the endophenotypes. We suggest procedural learning and the corticostriatal pathways as effective endophenotypes to aid molecular genetic studies searching for genes predisposing to DLI.