Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome

Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is the mostcommon pediatric musculoskeletal disorder, affecting ~3% of the population worldwide.However, its genetic bases and tissues of origin remain largely unknown. Severalgenome-wide association studies (GWAS) have implicated nucleotide variants innoncoding sequences that control genes with important roles in cartilage, muscle,bone, connective tissue and intervertebral discs (IVDs) as drivers of AIS susceptibility.Here, we set out to define the expression of AIS-associated genes and activeregulatory elements by performing RNA-seq and ChIP-seq against H3K27ac in thesetissues in mouse and human. Our study highlights genetic pathways involving AIS-associated loci that regulate chondrogenesis, IVD development and connective tissuemaintenance and homeostasis.