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

doi:10.5312/wjo.v16.i6.104853

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World Journal of Orthopedics

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2218-5836

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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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

Core Tip

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.