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A Multi-ethnic Meta-analysis Defined the Association of rs12946942
with Progression of Adolescent Idiopathic Scoliosis
Why some scoliosis curves get larger, or progress, is still unknown. The authors studied the DNA of patients with scoliosis of more than 40°. They found a specific small piece of DNA, known as a single nucleotide polymorphism (SNP), in many of these patients. This suggests a gene nearby, known as SOX9, may be involved in scoliosis getting larger. Other studies have shown SOX9 regulates how the skeleton develops. One mutation of SOX9 causes campomelic dysplasia, a rare disease with severe scoliosis. Learning more about SOX9 may help us come up with new treatments for scoliosis.
We still need to learn more about how SOX9 affects someone’s scoliosis. SOX9 is likely not the only gene involved in scoliosis getting larger. Scoliosis patients who agree to be have their DNA tested can help us learn more.
Summary provided by the SRS Patient Education Committee