先天性脊柱侧凸发生中的遗传决定因素作用。文献综述

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论证。先天性脊柱侧凸是一种复杂的多因素疾病，由于胚胎发育期间脊柱形成过程的异常所致。胚胎发育任何阶段出现障碍均可能导致先天性脊柱侧凸，进而引发脊柱进行性畸形。最近研究越来越多指出，遗传因素是该病发展的重要决定因素。

目的。分析文献数据，探讨先天性脊柱侧凸的遗传基础、分子调控机制、其发生频率、突变改变及特定基因的作用。

材料与方法。通过在PubMed、Google Scholar、Cochrane Library、Web of Science、 Lens.org、eLibrary数据库，以关键词进行文献检索，检索范围覆盖近25年。纳入标准包括：全文来源、荟萃分析、系统综述、先天性脊柱侧凸患者的队列研究、动物实验模型、病例-对照研究。排除标准包括：无全文、专利、实用新型、无临床数据支持的研究。根据上述标准，共筛选出54篇文献进行详细分析。

结果。根据文献分析，相关基因分为4类：易感基因（LMX1A、PTK7、SOX9、TBX6、TBXT）；突变可直接导致伴发脊柱侧凸的综合征或单基因疾病的基因（FBN1）；拷贝数变异基因（DHX40、DSCAM、MYSM1、 NOTCH2）；在脊柱侧凸患者中出现异常甲基化的基因（COL5A1、GRID1、GSE1、RGS3、SORCS2、IGH1、 IGH3、IGHM、KAT6B、TNS3）。

结论。科学文献分析显示，存在与先天性脊柱侧凸发生及其不同表型表现相关的遗传易感因素。 大规模研究数据有助于进一步厘清病因，拓展对先天性脊柱侧凸病程的预测能力。同时，小样本研究可能为进一步寻找该疾病的遗传决定因素提供研究前景。

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作者简介

Sergei V. Vissarionov

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: vissarionovs@gmail.com
ORCID iD: 0000-0003-4235-5048
SPIN 代码: 7125-4930

MD, PhD, Dr. Sci. (Medicine), Professor, Corresponding Member of RAS

俄罗斯联邦, Saint Petersburg

Polina А. Pershina

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

编辑信件的主要联系方式.
Email: polinaiva2772@gmail.com
ORCID iD: 0000-0001-5665-3009
SPIN 代码: 2484-9463

MD, PhD student

俄罗斯联邦, Saint Petersburg

Sergey E. Khalchitsky

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: s_khalchitski@mail.ru
ORCID iD: 0000-0003-1467-8739
SPIN 代码: 2143-7822

PhD, Cand. Sci. (Biology)

俄罗斯联邦, Saint Petersburg

Marat S. Asadulaev

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: marat.asadulaev@yandex.ru
ORCID iD: 0000-0002-1768-2402
SPIN 代码: 3336-8996
Scopus 作者 ID: 57191618743

MD, PhD, Cand. Sci. (Medicine)

俄罗斯联邦, Saint Petersburg

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