| 研究実績の概要 |
In human genetic studies, significant associations between common variants in oxytocin receptor gene (OXTR) and autism spectrum disorder (ASD) have been observed in multiple populations. Although common variations of OXTR have been studied extensively, little attention has been paid to rare variations. We compared the burden of rare coding variants in ASD individuals and health controls by using the accumulated whole genome sequencing and whole exome sequencing data, and we observed ASD seems have a higher mutation load. By using functional assay, we confirmed a known mutation that diminish the response to oxytocin,
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