Rare Variants in Adolescent Idiopathic Scoliosis
A major component of my research is the identification of associations between rare variants and AIS and it’s subphenotypes (i.e. hypermobility, Ghent systemic features, curve severity, height). To date, I have analyzed ~450 whole-exomes from AIS patients and > 900 control individuals. Using both single-gene and gene-set collapsing methods, we have identified a class of extracellular matrix proteins, specifically a group of musculoskeletal collagen genes, that collectively increase AIS risk by >2-fold. In particular, we observed >3-fold increase in AIS risk for carriers of novel rare variants in the COL11A2 gene, a known cause of deafness and Stickler syndrome.