Establishment of prediction model of onset and progression of adolescent idiopathic scoliosis for personalized medicine

2018 Fiscal Year Final Research Report

• Project/Area Number: 16H05453
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Orthopaedic surgery
• Research Institution: Keio University
• Principal Investigator: Matsumoto Morio 慶應義塾大学, 医学部(信濃町), 教授 (40209656)
• Co-Investigator(Kenkyū-buntansha): 渡邉 航太 慶應義塾大学, 医学部(信濃町), 講師 (60317170)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 思春期特発性側弯症 / 多遺伝子疾患 / 遺伝因子 / ゲノムワイド相関解析

Outline of Final Research Achievements

In order to clarify the genetic background of adolescent idiopathic scoliosis (AIS), we have conducted genetic study for AIS by using genome-wide association study (GWAS) which is a genetic statistical method. We have performed a total of three GWASs and identified 20 AIS susceptibility genes. The total number of samples exceeds 5000 samples and this is the largest cohort worldwide. And we have also identified a gene involved in severity and a gene involved in progression by stratification analyses of GWAS. Furthermore, we have conducted international meta-analysis with American, Swedish and Chinese research groups using GWAS data and replicated these susceptibility genes among other races.

Free Research Field

整形外科学

Academic Significance and Societal Importance of the Research Achievements

我々は世界に先駆けて、今まで不明であったAISの発症、重症化、進行に関与する遺伝子を明らかにした。これら遺伝子の機能を明らかにすることは、側弯症の病態解明につながり、学術的意義は大きい。また、これら遺伝情報とAISの環境的要因を総合的に評価し、AISの発症および重症化の予測モデルの確立を試みる予定である。発症、重症化を予防することができれば、現行の身体に負荷のかかる手術加療を回避することができる。その社会的意義は計り知れない。