Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review

Adolescent idiopathic scoliosis (AIS) is a lateral curvature of the spine that affects 2-3% of children and is known to have a strong genetic component. Decades of studies have revealed dozens of genetic variants that may contribute to disease risk, but these studies vary greatly in methodology, cohort demographics, and sample sizes. To critically assess the available evidence for genetic variants associated with AIS risk, we performed a systematic review of recent case-control genetic studies for AIS risk. Our screening methodology resulted in 33 included studies, encompassing data from >35,000 IS cases and >62,000 control individuals, who were mostly of Caucasian or Asian ancestry. The highest number of reported associations were in SNPs in or near LBX1, LBX1-AS1, GPR126/ADGRG6 and BNC2. We advocate for increased cohort diversity and improvement in control cohort selection in future studies. (By Liz Terhune, MS, https://jmg.bmj.com/content/early/2023/09/11/jmg-2022-108993 )

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