Elucidation candidate genes of cleft lip and palate using gene-gene interaction analysis

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K11689
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Surgical dentistry
• Research Institution: Kyushu University
• Principal Investigator: Arai Shinsaku 九州大学, 大学病院, 助教 (40529806)
• Co-Investigator(Kenkyū-buntansha): 柴田 弘紀 九州大学, 生体防御医学研究所, 准教授 (80315093)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Keywords: 口唇口蓋裂 / 遺伝要因 / マイクロアレイ

Outline of Final Research Achievements

Cleft lip and palate is a multifactorial disease. Identification of individual factors is extremely difficult, and various factors such as environmental factors and genetic factors are using to identify the factors causing cleft lip and palate. This study focused on genetic factors and aimed to verify the causative factors of cleft lip and palate.
As a search for cleft palate genes, a microarray method was performed using the mouse palate in the nascent stage. Gene ontology analysis of 2866 genes strongly expressed in the developing palate revealed that gene groups such as cell adhesion and regulation of cell proliferation were elevated in the hard palate. It was suggested that cell proliferation and cell adhesion by epithelial cells are important for fusion of the palate.

Free Research Field

口腔外科

Academic Significance and Societal Importance of the Research Achievements

歴史的に口唇裂口蓋裂患者やその家族は社会から不等な扱いを受けてきた事情がある。本研究の結果は、口唇裂口蓋裂の発症メカニズム解明へ重要な情報をもたらし、社会における口唇裂口蓋裂患者への正しい認識ならびに患者本人の疾患の受容に役立つことにより、口唇裂口蓋裂患者のQuality of lifeの向上へつながるものと期待される。