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多发性硬化症患者对干扰素-β治疗的反应中的单核苷酸多态性。

Single-nucleotide polymorphisms in response to interferon-beta therapy in multiple sclerosis.

机构信息

Neurogenomiks Group, Universidad del País Vasco (UPV/EHU), Leioa, Spain.

出版信息

J Interferon Cytokine Res. 2010 Oct;30(10):727-32. doi: 10.1089/jir.2010.0085.

DOI:10.1089/jir.2010.0085
PMID:20836710
Abstract

Interferon-beta (IFN-β) is one of the main first-line disease-modifying drugs indicated for the treatment of multiple sclerosis (MS). The drug exhibits only limited effectiveness, and does not produce clinical benefits in around 20%-50% of patients. The availability of biomarkers would be beneficial for identification of patients at high risk of treatment failure, before initiation of therapy. Over the last 5 years, the search for such biomarkers has intensified and various promising candidates have been uncovered. Here, we review the main attempts undertaken to identify polymorphic variants associated with response to IFN-β therapy in MS by means of candidate gene approaches and whole-genome association scans. Despite substantial progress made in the field, there is still a long way to go before biomarker discoveries can be incorporated into clinical practice to predict IFN-β-responder status in MS patients.

摘要

干扰素-β(IFN-β)是治疗多发性硬化症(MS)的主要一线疾病修正药物之一。该药物的疗效有限,大约 20%-50%的患者没有临床获益。生物标志物的出现将有助于在开始治疗前识别治疗失败风险高的患者。在过去的 5 年中,人们对这类生物标志物的研究日益深入,发现了多种有前途的候选物。在这里,我们回顾了通过候选基因方法和全基因组关联扫描来确定与 IFN-β 治疗 MS 反应相关的多态性变异的主要尝试。尽管该领域取得了重大进展,但在将生物标志物发现纳入临床实践以预测 MS 患者对 IFN-β 的反应状态之前,还有很长的路要走。

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引用本文的文献

1
The Variant rs7665090 Is Associated With Interferon-Beta Response in Multiple Sclerosis Patients.rs7665090变异与多发性硬化症患者的β-干扰素反应相关。
Eur J Neurol. 2025 Jul;32(7):e70227. doi: 10.1111/ene.70227.
2
Expression and Single Nucleotide Variants in Multiple Sclerosis Patients Affect the Response to Interferon Beta Therapy.多发性硬化症患者的表达及单核苷酸变异影响对β-干扰素治疗的反应。
Glob Med Genet. 2023 Jul 10;10(3):164-171. doi: 10.1055/s-0043-1771001. eCollection 2023 Sep.
3
Are randomized, blind clinical trials enough to guide individualized decisions for patients with neurologic diseases?
随机、盲法临床试验足以指导神经系统疾病患者的个体化决策吗?
Neurol Clin Pract. 2014 Aug;4(4):319-328. doi: 10.1212/CPJ.0000000000000046.
4
Progress in multiple sclerosis genetics.多发性硬化症遗传学的进展。
Curr Genomics. 2012 Dec;13(8):646-63. doi: 10.2174/138920212803759695.
5
Elevated type I interferon-like activity in a subset of multiple sclerosis patients: molecular basis and clinical relevance.多发性硬化症患者亚群中 I 型干扰素样活性升高:分子基础和临床相关性。
J Neuroinflammation. 2012 Jun 22;9:140. doi: 10.1186/1742-2094-9-140.
6
Pharmacogenomics and multiple sclerosis: moving toward individualized medicine.药物基因组学与多发性硬化症:迈向个体化医学。
Curr Neurol Neurosci Rep. 2011 Oct;11(5):484-91. doi: 10.1007/s11910-011-0211-1.