Genetics of adolescent idiopathic scoliosis

Abstract Adolescent idiopathic scoliosis (AIS) is the most common pediatric musculoskeletal disorder, affecting about 2–3% of the children worldwide. The underlying etiology of AIS has proven elusive, in part due to the lack of appropriate animal models and systems that would enable laboratory-based research. In contrast, genetic studies in patient populations have highlighted several candidate genes suggesting possible neuromuscular origins. Developing genetically defined animal models to facilitate hypothesis testing is a high priority for ongoing AIS research. Continued gene discovery efforts supported by next-generation genomic platforms will yield exciting new insights into AIS disease pathways, opening the prospect for pharmaceutical interventions.