Department of Psychological Sciences, University of Connecticut, Storrs, CT, USA; Haskins Laboratories, New Haven, CT, USA.
Child Psychopathology Unit, Scientific Institute, IRCCS E. Medea, Bosisio Parini, LC, Italy.
Neuropsychologia. 2019 Jul;130:44-51. doi: 10.1016/j.neuropsychologia.2018.07.015. Epub 2018 Aug 23.
Epidemiological population studies highlight the presence of substantial individual variability in reading skill, with approximately 5-10% of individuals characterized as having specific reading disability (SRD). Despite reported substantial heritability, typical for a complex trait, the specifics of the connections between reading and the genome are not understood. Recently, the SETBP1 gene has been implicated in several complex neurodevelopmental syndromes and disorders that impact language. Here, we examined the relationship between common polymorphisms in this gene, reading, and reading associated behaviors using data from an ongoing project on the genetic basis of SRD (n = 135). In addition, an exploratory analysis was conducted to examine the relationship between SETBP1 and brain activation using functional magnetic resonance imaging (fMRI; n = 73). Gene-based analyses revealed a significant association between SETBP1 and phonological working memory, with rs7230525 as the strongest associated single nucleotide polymorphism (SNP). fMRI analysis revealed that the rs7230525-T allele is associated with functional neural activation during reading and listening to words and pseudowords in the right inferior parietal lobule (IPL). These findings suggest that common genetic variation within SETBP1 is associated with reading behavior and reading-related brain activation patterns in the general population.
流行病学人群研究强调了阅读技能存在显著的个体差异，大约 5-10%的个体表现出特定的阅读障碍（SRD）。尽管报告的遗传力很大，这是复杂特征的典型特征，但阅读与基因组之间的具体联系尚不清楚。最近，SETBP1 基因已被牵连到几种影响语言的复杂神经发育综合征和疾病中。在这里，我们使用正在进行的关于 SRD 遗传基础的项目中的数据（n=135），研究了该基因中的常见多态性与阅读和阅读相关行为之间的关系。此外，还进行了一项探索性分析，使用功能磁共振成像（fMRI；n=73）来研究 SETBP1 与大脑激活之间的关系。基于基因的分析表明，SETBP1 与语音工作记忆之间存在显著关联，rs7230525 是最强相关的单核苷酸多态性（SNP）。fMRI 分析表明，rs7230525-T 等位基因与阅读和听单词和伪词时右顶下小叶（IPL）的功能神经激活有关。这些发现表明，SETBP1 内的常见遗传变异与一般人群的阅读行为和与阅读相关的大脑激活模式有关。
