Several disorders have been associated with genetic variants. Copy number variations (CNVs) are documented micro DNA insertions and deletions that may be ten times more frequent than point mutations. We undertook a genome-wide scan to find CNVs associated with adolescent idiopathic scoliosis (AIS). 879 white individuals with AIS severe spine curvatures and 1486 white controls were evaluated for CNVs with the Affymetrix 6.0 HUSNP array. After implementation of quality filters, data were quantile normalised. Copy number analysis was done with Helix Tree (Golden Helix, Bozeman, MT, USA). The copy number segments were measured with the Golden Helix's univariate segmentation algorithm. Statistically different segments were extracted with mean Log2 ratio intensity for that segment to highlight deletions, neutrals, and duplications. We then undertook association analysis on those segments. A p value of less than 10–7 was regarded as significant.Introduction
Methods
