Genetics of familial idiopathic scoliosis

Abstract

Idiopathic scoliosis in the adolescent period is a complex genetic disorder of high prevalence and extreme variability. Epidemiological approaches have confirmed the genetic basis of this disorder and have suggested multiple modes of heritability. The current challenge is to identify the genetic determinants of this condition to distinguish individuals who are at risk for severe progression. This review summarizes the literature establishing the genetic basis of this disorder. Studies focused on the identification of genes responsible for the scoliotic phenotype are reviewed, with an emphasis on recent works that have utilized contemporary strategies to isolate genes related to complex diseases. To date, molecular studies have isolated critical regions on chromosomes and X of potential importance to the etiology of scoliosis. An analysis of these works will aid in an understanding of seemingly conflicting results, and will help us determine the focus of future work.