Comprehensive human genome analysis associated with three-dimensional maxillofacial morphology obtained from cone-beam CT images.

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K17170
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 57070:Developmental dentistry-related
• Research Institution: Kanagawa Dental College
• Principal Investigator: Hikita Yu 神奈川歯科大学, その他部局等, 特任講師 (70824994)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: ヒトゲノム / 頭蓋学顔面 / 網羅的解析 / セファロ / コーンビームCT

Outline of Final Research Achievements

Malocclusion is caused by a synergy due to abnormal maxillofacial morphology and abnormal position of individual teeth. On the other hand, advances in genome science have gradually revealed the fundamental genetic information that characterizes maxillofacial morphology. This study attempts to identify novel or uncharacterized genetic factors in a number of subjects with cephalometric (lateral and frontal) and cone-beam CT images for the teeth and maxillofacial region that allow detailed morphological analysis. One of the phenotypes observed was the incisor canal. We analyzed the proximity of the incisal canal to the maxillary central incisor using cone-beam CT of different ethnic groups (Japanese, Korean, and Egyptian) to identify differences in maxillofacial morphology and statistical associations for nationality, age, and gender.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

これまでの顎口腔領域に関連した疾患・形質に関与する遺伝因子についての研究は先天性疾患や遺伝子改変動物の表現型、ならびに集団遺伝学の応用に基づく「候補遺伝子関連解析」が実施されてきた。しかし、歯の形態や頭蓋顎顔面形態をはじめとする顎口腔領域に関連した形質のほとんどは多因子形質である。本研究は網羅的ゲノム解析という先進的な研究手法を応用し顎顔面形態に関与する新規の、あるいは機能が明らかにされていない遺伝因子を解明する。遺伝因子の解明は病態の理解、発症リスクの予測（遺伝子診断）あるいは予防法の確立など歯科臨床に寄与する。