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. 2019 Dec 30;14(12):1297-1305.
doi: 10.1093/scan/nsaa008.

Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction

Tongjian Bai  1   2 , Long Zhang  1   2 , Xiaohui Xie  1 , Guixian Xiao  1 , Wanling Huang  1 , Dandan Li  2 , Meidan Zu  1 , Lin Wei  1   2   3 , Xianbo Zuo  2   3 , Gong-Jun J I  2   4 , Panpan Hu  1   2   3 , Chunyan Zhu  2   3   4 , Bensheng Qiu  3   5 , Yanghua Tian  1   2   3 , Kai Wang  1   2   3   4
Affiliations

Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction

Tongjian Bai et al. Soc Cogn Affect Neurosci. .

Abstract

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.

Keywords: CNTNAP2; dynamic functional connectivity; medial prefrontal cortex; social performance; temporoparietal junction.

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Figures

Fig. 1
Fig. 1
Modulatory effect of rs2710102 on social performance. (A) Mean score in the sub-aspects of AQ in two rs2710102 genotype groups. Carriers of the A allele showed poor social performance (high AQ-social score) compared to those with the GG genotype. There was no significant difference between two groups in the non-social sub-aspects (AQ-attention). (B) Fixation time percentage on different AOIs during eye-tracking task in two rs2710102 genotype groups. Carriers of the A allele showed shorter fixation time on eyes-AOI compared to those with the GG genotype and longer fixation time on non-core feature AOI. Error bars depict one standard error of the mean.
Fig. 2
Fig. 2
Modulatory effect of rs2710102 on the stationary functional connectivity of pRTPJ. The stationary functional connectivity pattern of pRTPJ was obtained by one-sample t-tests for rs2710102 GG homozygotes group (A) and AA/AG group (B). (C) Groups comparison revealed a decreased pRTPJ stationary connectivity with the orbital frontal cortex for the risk allele (AA/AG) compared with GG individuals. All threshold for comparisons were set as whole brain GRF correction (voxel P < 0.001, cluster P < 0.05).
Fig. 3
Fig. 3
Modulatory effect of rs2710102 on the dFC of pRTPJ. (A) Groups comparison revealed a decreased pRTPJ dynamic connectivity with the medial prefrontal cortex for the risk allele (AA/AG) compared with GG individuals. Threshold for comparison was set as whole brain GRF correction (voxel P < 0.001, cluster P < 0.05). (B) The pRTPJ-mPFC functional connectivity values were displayed for a single participant in the AA/AG group and a single participant in the GG group across the 33 sliding windows.
Fig. 4
Fig. 4
Relationship between social performance and dFC of pRTPJ with medial prefrontal cortex. Individual dynamic pRTPJ-mPFC functional connectivity was positively correlated with individual fixation time on eyes-AOI (A) and negatively correlated with individual fixation time on non-core feature AOI (B).
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