Department of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USA
Department of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USA.
Soc Cogn Affect Neurosci. 2014 Jun;9(6):832-8. doi: 10.1093/scan/nst039. Epub 2013 Mar 22.
Failure of the amygdala to habituate, or decrease response intensity, to repeatedly presented faces may be one mechanism by which individuals with autism spectrum disorders (ASD) develop and maintain social symptoms. However, genetic influences on habituation in ASD have not been examined. We hypothesized that serotonin transporter-linked promoter region (5-HTTLPR) genotype affects change in amygdala response to repeated sad faces differently in individuals with ASD vs healthy controls. Forty-four youth with ASD and 65 controls aged 8-19 years were genotyped and underwent an event-related functional magnetic resonance imaging scan where they identified the gender of emotional faces presented for 250 ms. The first half of the run was compared with the second half to assess habituation. 5-HTTLPR genotype influences amygdala habituation to sad faces differently for individuals with ASD vs controls. The genotype-by-diagnosis-by-run half interaction was driven by individuals with ASD and low expressing genotypes (S/S, S/L(G) and L(G)/L(G)), who trended toward sensitization (increase in amygdala activation) and whose habituation scores significantly differed from individuals with ASD and higher expressing genotypes (L(A)/L(A), S/L(A) and L(A)/L(G)) as well as controls with low expressing genotypes. Our results show that amygdala response to social stimuli in ASD, which may contribute to social symptoms, is genetically influenced.
杏仁核对反复呈现的面孔无法习惯或减少反应强度，这可能是自闭症谱系障碍（ASD）患者发展和维持社交症状的一种机制。然而，ASD 中习惯形成的遗传影响尚未得到研究。我们假设，5-羟色胺转运体相关启动子区域（5-HTTLPR）基因型对 ASD 个体和健康对照组中杏仁核对重复呈现的悲伤面孔的反应变化有不同的影响。44 名 ASD 青少年和 65 名 8-19 岁的健康对照组被进行基因分型，并接受了一项事件相关功能磁共振成像扫描，他们需要识别呈现 250 毫秒的情绪面孔的性别。运行的前半部分与后半部分进行比较，以评估习惯化。5-HTTLPR 基因型对 ASD 个体和健康对照组的悲伤面孔习惯化有不同的影响。这种基因型-诊断-运行半交互作用是由 ASD 患者和低表达基因型（S/S、S/L(G) 和 L(G)/L(G)）驱动的，这些患者表现出敏感化（杏仁核激活增加）的趋势，其习惯化评分与 ASD 患者和高表达基因型（L(A)/L(A)、S/L(A) 和 L(A)/L(G)）以及低表达基因型的对照组明显不同。我们的结果表明，ASD 中对社交刺激的杏仁核反应可能导致社交症状，这受到遗传的影响。
