The etiological mechanisms of the genetic underpinnings of developmental language disorder (DLD) are unknown, in part due to the behavioral heterogeneity of the disorder's manifestations. In this study, we explored an association between the SETBP1 gene (18q21.1), revealed in a genome-wide association study of DLD in a geographically isolated population, and brain network-based endophenotypes of functional intracortical coherence between major language-related brain areas. We analyzed electroencephalogram (EEG) data from thirty-nine children (twenty-three with, sixteen without DLD) aged 7.17-15.83 years acquired during an auditory picture-word matching paradigm. Variation at a single nucleotide polymorphism in the intronic region of the SETBP1 gene, rs8085464, explained 19% of the variance in intracortical network cohesion (p = .00478). This suggests that the development of these brain networks might be partially associated with the variation in SETBP1.

中文翻译：

---

SETBP1基因中常见的多态性预测文字处理过程中皮质语言网络的凝聚力。

发育语言障碍（DLD）的遗传基础的病因学机制尚不清楚，部分原因是该障碍表现的行为异质性。在这项研究中，我们探索了SETBP1基因（18q21.1）与地理上孤立的人群中DLD的全基因组关联研究揭示的关联，以及与主要语言相关的大脑之间基于大脑网络的功能性皮质内连贯性的内表型之间的关联地区。我们分析了在听觉图片-单词匹配范例中获得的年龄为7.17-15.83岁的39名儿童（23名有DDL，16名无DLD）的脑电图（EEG）数据。SETBP1基因内含子区域rs8085464中单核苷酸多态性的变异解释了皮质内网络内聚力变异的19％（p = .00478）。