颈椎畸形基因组学研究进展  

Research progress in genomics of cervical spine deformity

作　　者：李国壮 徐可欣 吴志宏 邱贵兴[1,2,3,5] 仉建国 吴南[1,2,3,5] LI Guozhuang;XU Kexin;WU Zhihong;QIU Guixing;ZHANG Jianguo;WU Nan(Department of Orthopaedics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing 100730,China;Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Beijing 100730,China;Key Laboratory of Big Data for Spinal Deformities,Chinese Academy of Medical Sciences,Beijing 100730,China;Medical Science Research Center(MRC),Chinese Academy of Medical Sciences,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院骨科,北京100730 [2]骨骼畸形遗传学研究北京市重点实验室,北京100730 [3]中国医学科学院脊柱畸形大数据研究与应用重点实验室,北京100730 [4]中国医学科学院医学研究中心,北京100730 [5]疑难重症及罕见病全国重点实验室,北京100730

出　　处：《中华骨与关节外科杂志》2024年第7期654-661,共8页Chinese Journal of Bone and Joint Surgery

基　　金：国家重点研发计划(2022YFC2703100,2022YFC2703901,2022YFC2703102);国家自然科学基金(82172525,82072391,81930068);中国医学科学院医学与健康科技创新工程(2021-I2M-1-051,2021-I2M-1-052,2022-I2M-2-001);北京协和医院中央高水平医院临床科研专项(2022-PUMCH-D-004,2022-PUMCH-D-002)。

摘　　要：颈椎畸形的特征在于颈椎结构的异常变化。颈椎畸形会严重影响颈椎健康,其精准诊疗是国内外脊柱外科领域的研究热点。近年来,基因组学的迅猛发展为颈椎畸形的诊疗与研究注入了新的活力,也为探究遗传因素在颈椎畸形发生发展过程中的作用提供了新的视角,有助于提升对颈椎畸形病因和发生机制的理解,也为制定颈椎畸形的个体精准治疗方案和预防策略指明了方向。本文从颈椎发育及遗传和环境因素的影响、遗传变异与检测技术、颈椎畸形相关疾病介绍、颈椎畸形合并症及深度表型评估方面,对颈椎畸形基因组学研究进展进行综述,旨在提高临床医师对颈椎畸形相关基因组学的认识。Cervical spine deformities are characterized by abnormal changes in the structure of the cervical spine.These deformities can severely impact the health of the cervical spine,and their precise diagnosis and treatment have become a major research focus in spine surgery worldwide.In recent years,the rapid development of genomics has revitalized the diagnosis,treatment,and research of cervical spine deformities.It has also provided new insights into genetic factors contributing to the occurrence and development of cervical spine deformities,which helps to enhance our understanding of the etiology and mechanisms of cervical spine deformities.Furthermore,it has illuminated the way towards individualized and precise therapeutic approaches and preventive strategies for cervical spine deformities.This article reviews the latest progress in genomics research on cervical spine deformities,discusses the interplay of genetic and environmental factors during the development of the cervical spine,explores the techniques for detecting genetic variations,introduces cervical spine deformities and their related diseases,and the in-depth analysis of the phenotypic manifestations of comorbidities associated with cervical spine deformities,and finally provides a summary and future prospects for research on cervical spine deformities,with the goal of enhancing clinicians'understanding of the genomics related to cervical spine deformities.

关 键 词：颈椎畸形 基因组学 变异 疾病 

分 类 号：R682[医药卫生—骨科学]