Study of Biomarkers of Obstructive Sleep Apnea by Epigenome-Wide Association Studies

2022 Fiscal Year Final Research Report

• Project/Area Number: 21K21177
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0908:Society medicine, nursing, and related fields
• Research Institution: Fujita Health University
• Principal Investigator: Maeda Keisuke 藤田医科大学, 医療科学部, 助教 (50906344)
• Project Period (FY): 2021-08-30 – 2023-03-31
• Keywords: 閉塞性睡眠時無呼吸 / DNAメチル化 / バイオマーカー / エピゲノムワイド関連解析

Outline of Final Research Achievements

A comparison of whole genome DNA methylation profiles in low and high AHI groups was performed in patients with OSA. The results showed that in the high AHI group, high DNA methylation levels such as MYT1L (cg09460712) and FOXP1 (cg18804229) and low DNA methylation levels such as RERE (cg16908156) and SEMA4C (cg13275176) were observed. In the MIR365A gene, JRK gene, and CAT gene regions, the two groups showed differences in DNA methylation levels. Although several previous studies have reported DNA methylation-related analyses in OSA patients, these DNA methylation sites observed in this study are novel.

Free Research Field

医学

Academic Significance and Societal Importance of the Research Achievements

本研究により、OSA患者のいくつかの遺伝子においてDNAメチル化が変化していることが明らかとなった。今後、さらに詳細な解析が必要ではあるが、本研究にて認められたOSAに関連する特定のまたは複数のメチル化サイトの変化を捉えることでOSAの早期発見・発症予測バイオマーカーとなる可能性が期待される。さらに将来的には循環器疾患等の合併症予測バイオマーカーの開発や合併症発生のメカニズム解明に貢献できる礎となることが期待できる。