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

2020 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 – 2022-03-31
• Keywords: Oxytocin / OXTR

Outline of Annual Research Achievements

To identify likely causal variants for autism spectrum disorder in the OXTR gene, we first conducted the imputation analysis based on our previous association study. We further applied a Bayesian refinement approach to define the subset of SNPs with posterior probability of 95% likely to contain the causal disease-associated SNPs. These credible SNP sets were then annotated by using the publicly available databases of regulatory elements including ENCODE, Epigenome RoadMap, FANTOM5 and GTEx.

Current Status of Research Progress

4: Progress in research has been delayed.

Reason

Due to the COVID-19, the research has been delayed and will be continued in the 2022.

Strategy for Future Research Activity

We will integrate the genetic analysis results and the functional study to gain a more comprehensive understanding of how variants in the OXTR gene confer the risk of autism spectrum disorder.

Causes of Carryover

Due to the COVID-19, the research activity has been delayed