June 24, 2021
RIKEN
Keio University School of Medicine
An international joint research group has developed a new method for predicting the onset and progression of adolescent idiopathic scoliosis (AIS) based on genetic polymorphisms in a large Japanese population. The group includes researchers from the RIKEN Center for Integrative Medical Sciences—Nao Otomo, Visiting Scientist at the Laboratory for Applied Genomics (at the time of research: Doctoral Programs, Graduate School of Medicine, Keio University), Team Leader Chikashi Terao, and Shiro Ikegawa, Team Leader of the Laboratory for Bone and Joint Diseases—and the Japan Scoliosis Clinical and Research Group, centered at the Department of Orthopedic Surgery, Keio University School of Medicine, led by Professor Morio Matsumoto and Associate Professor Kota Watanabe.
The results of this research are expected to lead to personalized and preventive medicine for AIS.
AIS is a disease of unknown cause characterized by a three-dimensional twisting of the spine, primarily affecting girls after the age of 10. As surgery is the only treatment for severe deformity, early detection and the identification of cases likely to become severe are key challenges.
The international joint research group used the world's largest AIS cohort from a previous study (comprising 5,004 female Japanese AIS patients and 37,597 controls) to calculate a polygenic risk score (PRS) from genetic information that correlates with the risk of developing AIS. Based on this score, they developed a prediction model for AIS onset. They then found that incorporating BMI (an indicator of obesity) into the prediction model improved its accuracy. Furthermore, they also developed a model with improved prediction accuracy by using only a small amount of genetic information that is more genetically relevant to AIS onset. Additionally, using a similar method, they successfully created a prediction model for severe cases that require surgical treatment.
This research was published in the online edition of the scientific journal "Journal of Bone and Mineral Research" on June 23.
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