2023/6/20
RIKEN, Keio University
Shizuoka General Hospital, University of Shizuoka
A joint research group, led by Nao Ohtomo, a Graduate Student Research Associate (at the time of the research, currently a Visiting Researcher) at the RIKEN Center for Integrative Medical Sciences, Laboratory for Applied Genomics (and a fourth-year student in the Ph.D. program at the Keio University Graduate School of Medicine at the time of the research), Team Leader Chikashi Terao (Director of the Department of Immunology at Shizuoka General Hospital and Project Professor at the University of Shizuoka), and the Japanese Scoliosis Clinical and Academic Research Group centered at the Keio University School of Medicine, Department of Orthopedic Surgery, has revealed a negative genetic causal relationship between the onset of adolescent idiopathic scoliosis (AIS) and body mass index (BMI), an indicator of obesity, based on genetic polymorphism data from a large Japanese population.
The findings of this research are expected to contribute to the elucidation of the pathology of AIS onset.
AIS is a disease of unknown cause in which the spine twists three-dimensionally, and it is mainly observed in girls after the age of 10. It is considered a multifactorial genetic disease involving both genetic and environmental factors, but many aspects of its cause remain unknown, and there is an urgent need to elucidate its pathology.
In this study, the joint research group analyzed the genetic causal relationship between AIS and BMI using a method called "Mendelian randomization (MR)." They used the results of a genetic study on the world's largest AIS research cohort of a Japanese population and the results of a genetic study on BMI in Japanese individuals held by BioBank Japan. The results showed that individuals who are genetically predisposed to a lower BMI (lean individuals) have a higher risk of developing AIS. A similar trend was found in Western populations, revealing for the first time a genetic causal relationship between low BMI and the risk of developing AIS.
This research was published in the online edition of the scientific journal Frontiers in endocrinology on June 20 (JST).
Please see below for the full press release.