PNAS:催产素受体多态性可预测儿童的社会障碍行为

摘要 : 美国斯坦福大学精神病学与行为科学系的一项研究发现，有社会行为缺陷的一些儿童表现出了血液催产素水平低以及催产素受体基因的突变，但是催产素功能被削弱不仅仅限于自闭症谱系障碍(ASD)的儿童。催产素促进动物与人类的社会行为，而研究提示催产素调控的削弱可能是人类的自闭症谱系障碍(ASD)的一个基础原因。相关文章发表于2014年8月4日的《PNAS》杂志上。

美国斯坦福大学精神病学与行为科学系的Karen J. Parker及其同事测量了193名3到13岁儿童的催产素血液水平，这些儿童一些被诊断为患有自闭症谱系障碍(ASD)，一些是前者的兄弟姐妹，还有一些是没有受到自闭症谱系障碍(ASD)影响的没有亲缘关系的儿童。这些儿童的催产素血液水平各异，而且低水平与社会功能削弱有关联，但是低催产素水平并不仅限于患有自闭症谱系障碍(ASD)的儿童。

与患有自闭症谱系障碍(ASD)以及未患自闭症谱系障碍(ASD)的兄弟姐妹进行比较发现了催产素血液水平有85.5%是可遗传的。对这些儿童的催产素受体基因OXTR 的小序列变异的分析也表明，尽管OXTR突变携带者表现出了感情识别和社会功能的削弱，这一现象并不仅限于患有自闭症谱系障碍(ASD)的儿童。

这组作者说，催产素可能对家庭成员的社会行为有类似的作用，而且催产素可能影响所有人的社会功能，不论他们的自闭症谱系障碍(ASD)状态如何。

原文摘要：

Plasma oxytocin concentrations and OXTRpolymorphisms predict social impairments in childrenwith and without autism spectrum disorder

Karen J. Parker, Joseph P. Garner, Robin A. Libove, Shellie A. Hyde, Kirsten B. Hornbeak,Dean S. Carson, Chun-Ping Liao, Jennifer M. PhilliPS, Joachim F. Hallmayer and Antonio Y. Hardan

The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals andhumans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTRSNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3–12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly andpositively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h2 = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the “G” allele of rs53576 showed impaired affect recognition performance and carriers of the “A” allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences onindividual differences in human social functioning, including the severe social impairments which characterize ASD.

作者：eurekalert

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