Genetic Variants Can Predict the Outcome of Brace Treatment in Patients With Adolescent Idiopathic Scoliosis.

IF 2.6 2区 医学 Q2 CLINICAL NEUROLOGY Spine Pub Date : 2025-02-15 Epub Date: 2024-08-29 DOI:10.1097/BRS.0000000000005137
Zhicheng Dai, Kaixing Min, Zhichong Wu, Leilei Xu, Zhenhua Feng, Yong Qiu, Zezhang Zhu
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Abstract

Study design: A genetic case-control study.

Objectives: To investigate the association between AIS progression-associated SNPs reported by GWAS studies and the effectiveness of brace treatment.

Summary of background data: Bracing is the most effective conservative method to treat adolescent idiopathic scoliosis (AIS). Several factors have been reported to be associated with bracing failure in AIS patients. Genetic markers associated with AIS have potential prognostic value.

Methods: A retrospective cohort of AIS patients undergoing brace treatment was enrolled in this study and divided into success and failure groups based on treatment outcome. Clinical characteristics of AIS patients were documented. Candidate SNPs were selected from previous GWAS studies of AIS, which were known to be associated with curve progression and validated across diverse populations. Genotype and allele frequencies between the success and failure groups were compared using χ 2 analysis.

Results: A total of 259 female AIS patients were included in this study, 30.5% of the well-braced patients had curve progression exceeding 5° and 69.5% of the patients undergo an improvement or progression of <5°. Allele C of rs10738445 ( BNC2 ) could significantly add to the risk of bracing failure, with odds ratio of 1.59. No significant association with bracing outcomes was found for rs12946942 ( SOX9/KCNJ2 ), rs1978060 ( TBX1 ), rs1017861 ( CHD7 ), and rs35333564 ( MIR4300HG ).

Conclusions: SNP rs10738445 were significantly associated with brace treatment effectiveness. The other four SNPs were not significantly associated with the outcome of bracing. More SNPs and predictors should be included in future study to develop a more accurate predictive model for clinical application.

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基因变异可预测青少年特发性脊柱侧凸患者支架治疗的结果。
研究设计遗传病例对照研究:调查GWAS研究报告的AIS进展相关SNPs与支具治疗效果之间的关联:支架治疗是治疗青少年特发性脊柱侧凸(AIS)最有效的保守方法。据报道,有几个因素与 AIS 患者的支撑治疗失败有关。与AIS相关的遗传标记具有潜在的预后价值:本研究对接受支具治疗的 AIS 患者进行了回顾性队列研究,并根据治疗结果分为成功组和失败组。研究记录了 AIS 患者的临床特征。候选 SNPs 选自之前的 AIS 基因组学分析研究,这些 SNPs 已知与曲线进展相关,并在不同人群中得到验证。采用卡方分析比较成功组和失败组的基因型和等位基因频率:本研究共纳入了 259 名女性 AIS 患者,30.5% 的矫治良好患者的曲线进展超过了 5°,69.5% 的患者的曲线改善或进展小于 5°。rs10738445(BNC2)的等位基因 C 可显著增加支撑失败的风险,几率比为 1.59。rs12946942(SOX9/KCNJ2)、rs1978060(TBX1)、rs1017861(CHD7)和rs35333564(MIR4300HG)与矫治结果无明显关联:SNP rs10738445 与支架治疗效果明显相关。结论:SNP rs10738445 与支具治疗效果有显著相关性,其他四个 SNP 与支具治疗效果无显著相关性。今后的研究应纳入更多的 SNPs 和预测因子,以开发出更准确的预测模型供临床应用。
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来源期刊
Spine
Spine 医学-临床神经学
CiteScore
5.90
自引率
6.70%
发文量
361
审稿时长
6.0 months
期刊介绍: Lippincott Williams & Wilkins is a leading international publisher of professional health information for physicians, nurses, specialized clinicians and students. For a complete listing of titles currently published by Lippincott Williams & Wilkins and detailed information about print, online, and other offerings, please visit the LWW Online Store. Recognized internationally as the leading journal in its field, Spine is an international, peer-reviewed, bi-weekly periodical that considers for publication original articles in the field of Spine. It is the leading subspecialty journal for the treatment of spinal disorders. Only original papers are considered for publication with the understanding that they are contributed solely to Spine. The Journal does not publish articles reporting material that has been reported at length elsewhere.
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