Kimura Ryo, Tomiwa Kiyotaka, Inoue Ryo, Suzuki Shiho, Nakata Masatoshi, Awaya Tomonari, Kato Takeo, Okazaki Shin, Heike Toshio, Hagiwara Masatoshi
Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan; Department of Child Neurology, Osaka City General Hospital, Osaka 534-0021 Japan; Todaiji Ryoiku Hospital for Children, Nara 630-8211, Japan.
Psychoneuroendocrinology. 2020 May;115:104631. doi: 10.1016/j.psyneuen.2020.104631. Epub 2020 Feb 20.
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.
威廉姆斯综合征（WS）由7号染色体q11.23区域的微缺失引起，具有多种身体和认知症状。特别是，WS的特征是过度社交（过度友好）行为；由于WS表型的某些方面与自闭症谱系障碍（ASD）的表型形成对比，WS受到了关注。催产素受体基因（OXTR）通过调节催产素（OXT）分泌对社会行为表型产生影响。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WS中OXTR的调控情况。我们检测了WS患者和对照组血液中的基因表达水平，然后在两个独立队列中分析了甲基化水平。我们发现，与对照组相比，WS患者的OXTR表达下调且甲基化程度较高。我们的研究结果可能为OXTR在介导WS复杂社会行为表型方面提供见解。
