Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor (OXTR). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy. Participants were adolescents (mean age = 14.7 ± 1.7) who were genotyped for single nucleotide polymorphisms (SNPs) within the OXTR and underwent functional brain imaging while completing the adolescent version of the ‘Reading the Mind in the Eyes’ Test (Eyes Test). Two (rs2254298, rs53576) of the five OXTR SNPs examined were significantly associated with brain activity during the Eyes Test, and three of the SNPs (rs2254298, rs53576, rs2268491) interacted with diagnostic status to predict brain activity. All of the effects localized to the right supramarginal gyrus (rSMG) and an overlap analysis revealed a large overlap of the effects. An exploratory analysis showed that activity within an anatomically defined rSMG and genotype can predict diagnostic status with reasonable accuracy. This is one of the first studies to investigate OXTR and brain function in autism. The findings suggest a neurogenetic mechanism by which OXTR-dependent activity within the rSMG is related to the aetiology of autism.

中文翻译：

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催产素受体基因在自闭症的情感识别任务中预测大脑活动

自闭症是高度多样化且可遗传的神经发育疾病，常见变异解释了约50％的自闭症遗传变异。涉及自闭症的基因之一是催产素受体（OXTR）。当前的研究结合了遗传和脑成像（fMRI）数据，以检验基因型对认知和移情的反应对诊断和脑活动之间关联的调节作用。参加研究的是青少年（平均年龄= 14.7±1.7），他们在OXTR内进行了单核苷酸多态性（SNP）基因分型，并在完成了青少年版的“阅读眼神”测试（Eyes Test）的同时进行了功能性脑成像。在眼睛测试期间，所检查的五个OXTR SNP中有两个（rs2254298，rs53576）与大脑活动显着相关，而三个SNP（rs2254298，rs53576，rs2268491）与诊断状态相互作用以预测大脑活动。所有的影响都局限在右上肺回（rSMG），并且重叠分析显示，这些影响有很大的重叠。一项探索性分析表明，解剖学定义的rSMG和基因型内的活性可以合理准确地预测诊断状态。这是研究OXTR和自闭症患者脑功能的首批研究之一。这些发现提示了一种神经遗传学机制，rSMG中的OXTR依赖性活性与自闭症的病因有关。一项探索性分析表明，解剖学定义的rSMG和基因型内的活性可以合理准确地预测诊断状态。这是研究OXTR和自闭症患者脑功能的首批研究之一。这些发现提示了一种神经遗传学机制，rSMG中的OXTR依赖性活性与自闭症的病因有关。一项探索性分析表明，解剖学定义的rSMG和基因型内的活性可以合理准确地预测诊断状态。这是研究OXTR和自闭症患者脑功能的首批研究之一。这些发现提示了一种神经遗传学机制，rSMG中的OXTR依赖性活性与自闭症的病因有关。