Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis

Adolescent idiopathic scoliosis is a common pediatric musculoskeletal disease that has significant impacts on childhood quality of life. Recent genome-wide association studies have identified dozens of genetic risk loci and hundreds of risk variants that primarily reside in non-coding regions of the genome. Follow up studies suggest a complex genetic architecture in which several tissues may be affected, however few causal disease variants have been identified. Here we review the functional AIS-associated variants that have been identified, how they may contribute to disease etiology, and necessary advancements that will link the effects of non-coding variants to disease mechanisms.