Adolescent idiopathic scoliosis and genetic testing

Curr Opin Pediatr. 2010 Feb;22(1):67-70. doi: 10.1097/MOP.0b013e32833419ac.


Purpose of review: Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity affecting 2% of the population. Initial diagnosis is straightforward. Determining which curves will progress and warrant intervention is still problematic. Recent genetics research has discovered markers that are associated with progression to a severe curve, providing new information that can lead to more effective care with lower cost and fewer unnecessary radiographs and brace applications.

Recent findings: Current family studies indicate that AIS is a polygenic disorder with multiple patterns of inheritance. Genetic markers have been identified that are related to AIS curve progression to a severity in which surgery is often performed (under review 2009). These genetic markers have been validated in white girls and boys but are not yet confirmed in Asians or African-Americans. These markers provide a basis for calculating the risk of progression in a score-based model, thus enabling personalized medical decisions. Further research following these discoveries may lead to an understanding of the underlying molecular biology of AIS.

Summary: Genetic markers have been identified that are associated with progression to a severe curve in AIS patients. A risk of progression score can be calculated using these saliva-based DNA markers that risk stratifies patients on a scale of 1-200. This AIS progression test enables personalized medical decisions for treatment algorithms and improves the quality of care by allowing evidence-based management decisions.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Disease Progression
  • Genetic Markers
  • Genetic Testing*
  • Genome-Wide Association Study
  • Humans
  • Mass Screening
  • Polymorphism, Single Nucleotide
  • School Health Services
  • Scoliosis / diagnosis*
  • Scoliosis / genetics*


  • Genetic Markers