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颈椎畸形基因组学研究进展

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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.
Research progress in genomics of cervical spine deformity
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.

Cervical Spine DeformityGenomicsVariantDisease

李国壮、徐可欣、吴志宏、邱贵兴、仉建国、吴南

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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

骨骼畸形遗传学研究北京市重点实验室,北京 100730

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

中国医学科学院医学研究中心,北京 100730

疑难重症及罕见病全国重点实验室,北京 100730

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颈椎畸形 基因组学 变异 疾病

国家重点研发计划国家重点研发计划国家重点研发计划国家自然科学基金国家自然科学基金国家自然科学基金中国医学科学院医学与健康科技创新工程中国医学科学院医学与健康科技创新工程中国医学科学院医学与健康科技创新工程北京协和医院中央高水平医院临床科研专项北京协和医院中央高水平医院临床科研专项

2022YFC27031002022YFC27039012022YFC27031028217252582072391819300682021-I2M-1-0512021-I2M-1-0522022-I2M-2-0012022-PUMCH-D-0042022-PUMCH-D-002

2024

10.3969/j.issn.2095-9958.2024.07.13

中华骨与关节外科杂志
中国医学科学院 中国协和医学院

中华骨与关节外科杂志

CSTPCD北大核心
影响因子：0.906
ISSN：2095-9958
年,卷(期)：2024.17(7)
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