Social deficits are features of autism and highly heritable traits. A common variant in autism-related CNTNAP2 gene, rs2710102, has been linked with social performance, but the neural substrates are largely unknown. We investigated variations in social performance and functional connectivity (static and dynamic) in the subregions of right temporoparietal junction (RTPJ), a key node of brain social network, using resting-state magnetic resonance imaging (n = 399) by genotype at rs2710102 in healthy volunteers. Social performance was evaluated using the social domain of the Autism-Spectrum Quotient (AQ-social; n = 641) and fixation time on eye areas during an eye-tracking task (n = 32). According to previous evidence that the A-allele is the risk allele for social dysfunction, we classified participants into GG and A-allele carriers (AA/AG) groups. The A-allele carriers showed poor social performance (high AQ-social and short fixation time on eye areas) compared with the GG carriers. In the A-allele carriers, decreased stationary functional connectivity between the orbitofrontal cortex and posterior RTPJ (pRTPJ), and decreased dynamic functional connectivity (dFC) between the medial prefrontal cortex (mPFC) and pRTPJ were observed. The fixation time at eye areas positively were correlated with the pRTPJ-mPFC dFC. These findings provided insight for genetic effect on social behavior and its potential neural substrate.

中文翻译：

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CNTNAP2基因的常见变体调节右颞颞顶交界处的社交表现和功能连接。

社会缺陷是自闭症的特征和高度遗传的特征。自闭症相关的CNTNAP2基因的一个常见变体rs2710102与社交表现有关，但神经底物很大程度上未知。我们使用rs2710102的基因型在静止状态磁共振成像（n = 399）下调查了右颞颞叶交界处（RTPJ）（大脑社交网络的关键节点）的子区域的社交表现和功能连接性（静态和动态）的变化。健康的志愿者。使用自闭症患者的社交领域（AQ-社交； n = 641）和在眼动追踪任务期间在眼部区域的注视时间（n = 32）来评估社会绩效。根据以前的证据，A等位基因是社交功能障碍的风险等位基因，我们将参与者分为GG和A等位基因携带者（AA / AG）组。与GG携带者相比，A等位基因携带者表现出较差的社交表现（较高的AQ社交能力和较短的眼部注视时间）。在A等位基因携带者中，观察到眶额叶皮层和后RTPJ（pRTPJ）之间的固定功能连接性降低，以及内侧额叶前皮层（mPFC）和pRTPJ之间的动态功能连接性（dFC）降低。眼部区域的固定时间与pRTPJ-mPFC dFC正相关。这些发现为了解遗传对社会行为及其潜在神经底物的影响提供了见识。并观察到内侧前额叶皮层（mPFC）和pRTPJ之间的动态功能连接性（dFC）降低。眼部区域的固定时间与pRTPJ-mPFC dFC正相关。这些发现为了解遗传对社会行为及其潜在神经底物的影响提供了见识。并观察到内侧前额叶皮层（mPFC）和pRTPJ之间的动态功能连接性（dFC）降低。眼部区域的固定时间与pRTPJ-mPFC dFC正相关。这些发现为了解遗传对社会行为及其潜在神经底物的影响提供了见识。