Dysregulation of the oxytocin receptor gene in Williams syndrome
Dysregulation of the oxytocin receptor gene in Williams syndrome
复制标题
威廉姆斯综合征催产素受体基因失调
DOI：
10.1016/j.psyneuen.2020.104631
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发表时间：
2020
影响因子：
3.7
通讯作者：
Hagiwara Masatoshi
中科院分区：
文献类型：
--
作者：
Kimura Ryo;Tomiwa Kiyotaka;Inoue Ryo;Suzuki Shiho;Nakata Masatoshi;Awaya Tomonari;Kato Takeo;Okazaki Shin;Heike Toshio;Hagiwara Masatoshi
威廉姆斯综合征（WS）是由染色体7q11.23的微缺失引起的，并且以各种身体和认知症状为特征。特别是，WS的特点是超社会（过度友好）的行为; WS已获得关注的WS表型与自闭症谱系障碍（ASD）的对比方面。催产素受体基因（OXTR）有助于与催产素（OXT）分泌调节相关的社会表型。此外，最近越来越多的证据表明，DNA甲基化OXTRis与人类的社会行为。然而，OXTR在WS中的作用仍不清楚。本研究探讨了WS中OXTR的调控。我们检测了WS患者和对照组血液中的基因表达水平，然后分析了两个独立队列中的甲基化水平。我们发现，与对照组相比，WS患者的OXTR表达下调，甲基化水平升高。我们的研究结果可能提供了一个深入了解OXTRin介导复杂的社会表型在WS。
Williams syndrome (WS) is caused by a microdeletion of chromosome 7q11.23, and is characterized by various physical and cognitive symptoms. In particular, WS is characterized by hypersocial (overfriendly) behavior; WS has gained attention as aspects of the WS phenotype contrast with those of autism spectrum disorder (ASD). The oxytocin receptor gene (OXTR) contributes to social phenotypes in relation to regulation of oxytocin (OXT) secretion. Additionally, mounting evidence has recently shown that DNA methylation ofOXTRis associated with human social behavior. However, the role ofOXTRin WS remains unclear. This study investigated the regulation ofOXTRin WS. We examined the gene expression levels in blood from WS patients and controls, and then analyzed the methylation levels in two independent cohorts. We showed thatOXTRwas down-regulated and hypermethylated in WS patients compared to controls. Our findings may provide an insight intoOXTRin mediating complex social phenotypes in WS.