Velasquez Francisco, Wiggins Jillian Lee, Mattson Whitney I, Martin Donna M, Lord Catherine, Monk Christopher S
Department of Psychology, University of Michigan, United States.
Department of Psychology, University of Michigan, United States.
Dev Cogn Neurosci. 2017 Apr;24:12-20. doi: 10.1016/j.dcn.2016.12.002. Epub 2016 Dec 23.
Social deficits in autism spectrum disorder (ASD) are linked to amygdala functioning and functional connection between the amygdala and subgenual anterior cingulate cortex (sACC) is involved in the modulation of amygdala activity. Impairments in behavioral symptoms and amygdala activation and connectivity with the sACC seem to vary by serotonin transporter-linked polymorphic region (5-HTTLPR) variant genotype in diverse populations. The current preliminary investigation examines whether amygdala-sACC connectivity differs by 5-HTTLPR genotype and relates to social functioning in ASD. A sample of 108 children and adolescents (44 ASD) completed an fMRI face-processing task. Youth with ASD and low expressing 5-HTTLPR genotypes showed significantly greater connectivity than youth with ASD and higher expressing genotypes as well as typically developing (TD) individuals with both low and higher expressing genotypes, in the comparison of happy vs. baseline faces and happy vs. neutral faces. Moreover, individuals with ASD and higher expressing genotypes exhibit a negative relationship between amygdala-sACC connectivity and social dysfunction. Altered amygdala-sACC coupling based on 5-HTTLPR genotype may help explain some of the heterogeneity in neural and social function observed in ASD. This is the first ASD study to combine genetic polymorphism analyses and functional connectivity in the context of a social task.
自闭症谱系障碍（ASD）中的社交缺陷与杏仁核功能有关，杏仁核与膝下前扣带回皮质（sACC）之间的功能连接参与了杏仁核活动的调节。行为症状、杏仁核激活以及与sACC的连接受损情况似乎因不同人群中血清素转运体相关多态性区域（5-HTTLPR）变异基因型而异。当前的初步研究探讨了杏仁核与sACC的连接是否因5-HTTLPR基因型而异，以及是否与ASD中的社交功能相关。108名儿童和青少年（44名患有ASD）的样本完成了一项功能磁共振成像面部处理任务。在比较开心脸与基线脸以及开心脸与中性脸时，患有ASD且5-HTTLPR基因型低表达的青少年比患有ASD且基因型高表达的青少年以及基因型低表达和高表达的典型发育（TD）个体表现出显著更强的连接。此外，患有ASD且基因型高表达的个体在杏仁核与sACC的连接和社交功能障碍之间呈现负相关。基于5-HTTLPR基因型的杏仁核与sACC耦合改变可能有助于解释在ASD中观察到的神经和社交功能的一些异质性。这是第一项在社交任务背景下将基因多态性分析与功能连接相结合的ASD研究。
