The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
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DOI：
10.1038/mp.2014.77
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发表时间：
2015-05-01
影响因子：
11
通讯作者：
Waldman, I. D.
中科院分区：
文献类型：
--
作者：
LoParo, D.;Waldman, I. D.
催产素受体基因（OXTR）被认为是自闭症谱系障碍（ASD）的一个危险因素，因为从多个层面的分析越来越多的证据表明，催产素（OXT）在非人类哺乳动物和人类的亲和行为和社会联系的调节中起着重要作用。关联研究中包含的OXTR变异效应大小的不一致使得人们不清楚OXTR是否真的与ASD相关，如果是的话，哪些OXTR单核苷酸多态性（snp）与ASD相关。因此，需要对现有研究进行荟萃分析，以确定OXTR是否与ASD相关，并阐明哪些特异性snp对ASD有显著影响。目前对16个OXTR SNP的荟萃分析包括来自11个独立样本的3941名ASD患者，尽管对每个个体SNP的分析只包括总数的一个子集。我们发现ASD与snp rs7632287、rs237887、rs2268491和rs2254298之间存在显著关联。在一项基于基因的测试中，OXTR也与ASD显著相关。目前的荟萃分析是对OXTR与ASD关联的最大和最全面的调查，研究结果为ASD病因学的未来研究提供了方向。
The oxytocin receptor gene (OXTR) has been studied as a risk factor for autism spectrum disorder (ASD) owing to converging evidence from multiple levels of analysis that oxytocin (OXT) has an important role in the regulation of affiliative behavior and social bonding in both nonhuman mammals and humans. Inconsistency in the effect sizes of the OXTR variants included in association studies render it unclear whether OXTR is truly associated with ASD, and, if so, which OXTR single-nucleotide polymorphisms (SNPs) are associated. Thus, a meta-analytic review of extant studies is needed to determine whether OXTR shows association with ASD, and to elucidate which specific SNPs have a significant effect on ASD. The current meta-analysis of 16 OXTR SNPs included 3941 individuals with ASD from 11 independent samples, although analyses of each individual SNP included a subset of this total. We found significant associations between ASD and the SNPs rs7632287, rs237887, rs2268491 and rs2254298. OXTR was also significantly associated with ASD in a gene-based test. The current meta-analysis is the largest and most comprehensive investigation of the association of OXTR with ASD and the findings suggest directions for future studies of the etiology of ASD.