Contribution of FGFR1 Variants to Craniofacial Variations

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K17338
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Orthodontics/Pediatric dentistry
• Research Institution: Showa University
• Principal Investigator: Haga Shugo 昭和大学, 歯学部, 講師 (00736655)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 頭蓋縫合部 / 遺伝要因 / 頭蓋顎顔面形態 / ゲノム / FGFR1

Outline of Final Research Achievements

FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped. These SNPs were tested for association with craniofacial measurements obtained from lateral and posteroanterior cephalometries, in which principle component analysis was performed to compress the data of the craniofacial measurements. We observed that SNPs rs13317 and rs6996321 were correlated with the overall head size and midfacial development, indicating that FGFR1 SNPs played crucial roles in the normal variation of human craniofacial morphology.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

不正咬合（咬合の異常）は上下の顎骨や歯列、個々の歯の形態や大きさ等が複雑に関与し発症する疾患である。矯正歯科治療では小児期から顎骨や歯列の成長発育に介入するため、不正咬合の原因解明は重要である。本研究では先天性疾患を除いた一般集団での頭蓋顎顔面形態への影響を理解するものであり、過去の報告も極めて少なく、また学術的・社会的意義においても独創的な研究課題といえる。