Zhao R, Zhao JR, Xue X, Ma D. Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective. World J Orthop 2025; 16(6): 104853 [DOI: 10.5312/wjo.v16.i6.104853]
Corresponding Author of This Article
Ji-Rong Zhao, Chief Physician, Professor, Clinical College of Chinese Medicine, Gansu University of Chinese Medicine, No. 35 Dingxi East Road, Chengguan District, Lanzhou 730000, Gansu Province, China. zhaojirong0709@163.com
Research Domain of This Article
Orthopedics
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Orthop. Jun 18, 2025; 16(6): 104853 Published online Jun 18, 2025. doi: 10.5312/wjo.v16.i6.104853
Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective
Rui Zhao, Ji-Rong Zhao, Xu Xue, Dong Ma
Rui Zhao, Ji-Rong Zhao, Xu Xue, Dong Ma, Clinical College of Chinese Medicine, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China
Author contributions: Zhao R, Xue X, and Ma D completed the draft of the paper; Zhao JR revised the article.
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.
Conflict-of-interest statement: The authors report no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ji-Rong Zhao, Chief Physician, Professor, Clinical College of Chinese Medicine, Gansu University of Chinese Medicine, No. 35 Dingxi East Road, Chengguan District, Lanzhou 730000, Gansu Province, China. zhaojirong0709@163.com
Received: January 6, 2025 Revised: February 24, 2025 Accepted: May 21, 2025 Published online: June 18, 2025 Processing time: 165 Days and 18.3 Hours
Abstract
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.
Core Tip: Congenital scoliosis (CS) is a common spinal deformity with complex and incompletely understood causes. This review highlights recent advances in genetic and epigenetic research on CS, focusing on the identification of genetic variants, susceptibility factors, and their regulatory mechanisms. By examining genetic markers, chromosomal abnormalities, and epigenetic modifications, we explore how genetic predisposition interacts with environmental influences in CS pathogenesis. This integrated analysis aims to enhance our understanding of CS etiology, guiding future clinical interventions and the development of personalized therapeutic approaches.
