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 of OXTR is associated with human social behavior. However, the role of OXTR in WS remains unclear. This study investigated the regulation of OXTR in 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 that OXTR was down-regulated and hypermethylated in WS patients compared to controls. Our findings may provide an insight into OXTR in mediating complex social phenotypes in WS.

中文翻译：

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威廉姆斯综合征催产素受体基因的失调

威廉姆斯综合征 (WS) 是由染色体 7q11.23 的微缺失引起的，其特征在于各种身体和认知症状。特别是，WS 的特点是过度社交（过度友好）行为；WS 已获得关注，因为 WS 表型与自闭症谱系障碍 (ASD) 的表型形成对比。催产素受体基因 (OXTR) 有助于与调节催产素 (OXT) 分泌相关的社会表型。此外，最近越来越多的证据表明 OXTR 的 DNA 甲基化与人类社会行为有关。然而，OXTR 在 WS 中的作用仍不清楚。本研究调查了 OXTR 在 WS 中的调节。我们检查了 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 下调和高甲基化。我们的研究结果可能会提供对 OXTR 在介导 WS 中复杂社会表型方面的见解。