{"title":"解读先天性脊柱侧凸的病因:遗传学和表观遗传学的观点。","authors":"Rui Zhao, Ji-Rong Zhao, Xu Xue, Dong Ma","doi":"10.5312/wjo.v16.i6.104853","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":47843,"journal":{"name":"World Journal of Orthopedics","volume":"16 6","pages":"104853"},"PeriodicalIF":2.3000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179907/pdf/","citationCount":"0","resultStr":"{\"title\":\"Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.\",\"authors\":\"Rui Zhao, Ji-Rong Zhao, Xu Xue, Dong Ma\",\"doi\":\"10.5312/wjo.v16.i6.104853\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":47843,\"journal\":{\"name\":\"World Journal of Orthopedics\",\"volume\":\"16 6\",\"pages\":\"104853\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-06-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179907/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World Journal of Orthopedics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5312/wjo.v16.i6.104853\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ORTHOPEDICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Orthopedics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5312/wjo.v16.i6.104853","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ORTHOPEDICS","Score":null,"Total":0}
Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.
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.