Zhao Rui, Zhao Ji-Rong, Xue Xu, Ma Dong
Clinical College of Chinese Medicine, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China.
World J Orthop. 2025 Jun 18;16(6):104853. doi: 10.5312/wjo.v16.i6.104853.
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.
先天性脊柱侧凸(CS)是一种常见的脊柱畸形,其病因多方面,尚未完全明确。遗传和表观遗传学研究的最新进展为CS的发病机制提供了新的见解。在此,我们综述遗传学和表观遗传学的当前进展,以研究与CS相关的基因变异、易感因素和表观遗传调控机制。通过对多种遗传标记、染色体异常和表观遗传修饰的分析,阐明了CS发病机制中遗传易感性与环境影响之间的相关性。通过整合这些遗传和表观遗传学研究结果,本研究旨在阐明CS的潜在病因,为未来的临床干预提供指导,并促进个性化治疗策略的发展。