Congenital scoliosis (CS) is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood. Recent advances in genetic and epigenetic research have provided novel insights into CS pathogenesis. Herein, we review the current progress in genetics and epigenetics to examine genetic variants, susceptibility factors, and the epigenetic regulatory mechanisms implicated in CS. Through an analysis of diverse genetic markers, chromosomal abnormalities, and epigenetic modifications, the correlation between genetic predisposition and environmental influences in CS pathogenesis is elucidated. By integrating these genetic and epigenetic findings, this study aims to clarify the underlying etiology of CS to provide guidance on future clinical interventions and promote the development of personalized therapeutic strategies.
Keywords: Congenital scoliosis; Epigenetics; Genetic variants; Genetics; Susceptibility factors.
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