文献类型：期刊文献

英文题名：Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective

作者：Zhao, Rui[1];Zhao, Ji-Rong[1];Xue, Xu[1];Ma, Dong[1]

第一作者：Zhao, Rui

通信作者：Zhao, JR[1]

机构：[1]Gansu Univ Chinese Med, Clin Coll Chinese Med, 35 Dingxi East Rd, Lanzhou 730000, Gansu, Peoples R China

第一机构：甘肃中医药大学

通信机构：[1]corresponding author), Gansu Univ Chinese Med, Clin Coll Chinese Med, 35 Dingxi East Rd, Lanzhou 730000, Gansu, Peoples R China.|[10735]甘肃中医药大学;

年份：2025

卷号：16

期号：6

起止页码：1

外文期刊名：WORLD JOURNAL OF ORTHOPEDICS

收录：Scopus(收录号：2-s2.0-105008808654);WOS:【ESCI(收录号:WOS:001512158000010)】；

基金：Supported by the National Natural Science Foundation of China, No. 82460940; Major Project of Gansu Province Joint Fund, No. 23JRRA1519; Key Science and Technology Project of Gansu Province, No. 21ZD4FA009; Natural Science Foundation of Gansu Province, No. 24JRRA1040; and Gansu Province Famous Traditional Chinese Medicine Inheritance Studio Project.

语种：英文

外文关键词：Congenital scoliosis; Genetics; Epigenetics; Genetic variants; Susceptibility factors

摘要：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.