PDF(Pubmed)
Abstract：
The ability to attribute mental states to others is called theory of mind (ToM) and is a substantial component of social cognition. This ability is abnormally developed in individuals with autism spectrum disorder (ASD). Several studies over the past decade have identified the oxytocin receptor gene (OXTR) and its variants as promising components for explaining the molecular mechanisms underlying Theory of Mind (ToM). The main aim of this study is to examine the association between rs2268498 and rs53576, two functional single nucleotide polymorphisms (SNPs), and verbal and non-verbal ToM in children and adolescents with ASD and a group of typically developing youth.
The study involved 44 children and adolescents with high-functioning ASD aged 8 to 18 years old and 44 TD individuals who were matched on age and sex. In all participants, blood samples were collected and rs2268498 and rs53576 were genotyped. Happe\'s Strange Stories test and the moving shapes paradigm were used to measure verbal and non-verbal ToM in all participants.
The results of permutation tests and logistic regression suggested that in TD group, rs2268498 AA carriers showed significant higher scores in variables representing verbal ToM (ToM stories and appropriateness score) whereas, in ASD group, rs53576 AA carriers exhibited significant better performance in parameters related to non-verbal ToM (ToM general rule and intentionality score). The results of hierarchical clustering in both groups support the findings by distinguishing between language-related and language-independent aspects of ToM.
In the present study, we examined the association between rs2268498 and rs53576 and social functioning in individuals with ASD and TD group. We found preliminary evidence that rs2268498 and rs53576 are associated with ToM related abilities in healthy individuals as well as in autistic individuals. Accordingly, rs2268498 and rs53576 may play an important role in predicting ToM capabilities. It will be necessary to conduct further research to address the association of genetic variants with a deficit in ToM in individuals with ASD.
The study involved 44 children and adolescents with high-functioning ASD aged 8 to 18 years old and 44 TD individuals who were matched on age and sex. In all participants, blood samples were collected and rs2268498 and rs53576 were genotyped. Happe\'s Strange Stories test and the moving shapes paradigm were used to measure verbal and non-verbal ToM in all participants.
The results of permutation tests and logistic regression suggested that in TD group, rs2268498 AA carriers showed significant higher scores in variables representing verbal ToM (ToM stories and appropriateness score) whereas, in ASD group, rs53576 AA carriers exhibited significant better performance in parameters related to non-verbal ToM (ToM general rule and intentionality score). The results of hierarchical clustering in both groups support the findings by distinguishing between language-related and language-independent aspects of ToM.
In the present study, we examined the association between rs2268498 and rs53576 and social functioning in individuals with ASD and TD group. We found preliminary evidence that rs2268498 and rs53576 are associated with ToM related abilities in healthy individuals as well as in autistic individuals. Accordingly, rs2268498 and rs53576 may play an important role in predicting ToM capabilities. It will be necessary to conduct further research to address the association of genetic variants with a deficit in ToM in individuals with ASD.
摘要：
背景：将心理状态归因于他人的能力称为心理理论（ToM），是社会认知的重要组成部分。这种能力在患有自闭症谱系障碍（ASD）的个体中异常发展。在过去的十年中，一些研究已经确定了催产素受体基因（OXTR）及其变体作为解释心理理论（ToM）潜在分子机制的有希望的组成部分。这项研究的主要目的是检查rs2268498和rs53576之间的关联，两个功能性单核苷酸多态性（SNP），以及患有ASD的儿童和青少年以及一群典型的发展中青年的言语和非言语ToM。
方法：该研究包括44名8至18岁的高功能ASD儿童和青少年以及44名年龄和性别匹配的TD个体。在所有参与者中,收集血液样本，并对rs2268498和rs53576进行基因分型。Happe的“奇怪故事”测试和移动的形状范式用于测量所有参与者的言语和非言语ToM。
结果：排列检验和逻辑回归结果表明，在TD组中，rs2268498AA携带者在代表言语ToM（ToM故事和适当性得分）的变量中显示出较高的得分，而在ASD组中，rs53576AA携带者在与非语言ToM（ToM一般规则和意图得分）相关的参数中表现出显着更好的表现。通过区分ToM的与语言相关的方面和与语言无关的方面，两组中的分层聚类的结果都支持该发现。
结论：在本研究中，我们研究了ASD和TD组患者rs2268498和rs53576与社会功能之间的关联.我们发现初步证据表明，rs2268498和rs53576与健康个体以及自闭症个体的ToM相关能力相关。因此，rs2268498和rs53576可能在预测ToM能力方面发挥重要作用。有必要进行进一步的研究，以解决ASD个体中遗传变异与ToM缺陷的关联。
方法：该研究包括44名8至18岁的高功能ASD儿童和青少年以及44名年龄和性别匹配的TD个体。在所有参与者中,收集血液样本，并对rs2268498和rs53576进行基因分型。Happe的“奇怪故事”测试和移动的形状范式用于测量所有参与者的言语和非言语ToM。
结果：排列检验和逻辑回归结果表明，在TD组中，rs2268498AA携带者在代表言语ToM（ToM故事和适当性得分）的变量中显示出较高的得分，而在ASD组中，rs53576AA携带者在与非语言ToM（ToM一般规则和意图得分）相关的参数中表现出显着更好的表现。通过区分ToM的与语言相关的方面和与语言无关的方面，两组中的分层聚类的结果都支持该发现。
结论：在本研究中，我们研究了ASD和TD组患者rs2268498和rs53576与社会功能之间的关联.我们发现初步证据表明，rs2268498和rs53576与健康个体以及自闭症个体的ToM相关能力相关。因此，rs2268498和rs53576可能在预测ToM能力方面发挥重要作用。有必要进行进一步的研究，以解决ASD个体中遗传变异与ToM缺陷的关联。
