Methylome Analysis of Thyroid Dysgenesis

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09630
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Center for Child Health and Development (2016-2017); Keio University (2015)
• Principal Investigator: Narumi Satoshi 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (40365317)
• Co-Investigator(Renkei-kenkyūsha): Ito Takashi 九州大学, 医学研究院, 教授 (90201326)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 小児内内分泌学 / 甲状腺形成異常 / 遺伝学 / エピジェネティクス / メチローム

Outline of Final Research Achievements

In this study, we screened genomic region showing differential methylation levels using DNA samples derived from patients with thyroid dysgenesis (TD) or age-matched control individuals. Analysis with the PBAT method (TD N=7; control N=3) revealed about 300 genomi regions, including the CpG island of the thyroid-specific transcription factor PAX8, were identified as the candidate regions. However, replication analysis with the BeadArray method failed to reproduce the abnormalities identified in the initial screening. We also re-analyzed the difference with the dataset obtained by the BeadArray method, but no significant difference was detected in the clustering analysis and analysis focusing on thyroid-specific transcription factors. The above data did not support our working hypothesis that "DNA methylation abnormality is involved in the onset of TD".

Free Research Field

小児内分泌学