Understanding how genetic variants in the oxytocin receptor gene (OXTR) confer the risk of autism spectrum disorder - a genetic and molecular biology analysis

2019 Fiscal Year Research-status Report

• Project/Area Number: 18K15502
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: LIU XIAOXI 国立研究開発法人理化学研究所, 生命医科学研究センター, 研究員 (20709216)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: Autism / oxytocin receptor

Outline of Annual Research Achievements

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,

Current Status of Research Progress

3: Progress in research has been slightly delayed.

Reason

Due to my other research activities, the proposed project is slightly delayed than expected.

Strategy for Future Research Activity

We will finalize the genetic association analysis and performed functional assay for other rare variants.

Causes of Carryover

Due to the delay of the research, the grant will be carried over to next fiscal year.