Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Genetics and Molecular Biology, School of Medicine, Dezful University of Medical Sciences, Dezful, Iran.
Int J Neurosci. 2024 Apr;134(4):347-352. doi: 10.1080/00207454.2022.2102979. Epub 2022 Oct 20.
Multiple sclerosis (MS) is a multifactorial inflammatory and autoimmune condition that lead to chronic neurodegeneration and central nervous system (CNS) demyelination that mainly affects young adults. The incidence and prevalence rate of MS considerably vary in ethnicities and geographic regions and affecting women more than men. Interferon-β (IFN-β) is the first-line disease management for MS, while the majority of affected members does not respond to the IFN-β. Numerous recent studies shown a significant relationship between genetic variations and responsiveness to the IFN-β. Therefore, determining the genetic differences in the drug response could help determine precise treatment strategies.
The genotyping of the rs7298096 polymorphism (SNP) and gene expression were assessed in 99 responders and 106 non-responder patients with IFN-β treated RRMS.
The distribution of rs7298096 SNP was significantly different in the responders and non-responder patients and the gene expression considerably increased in the non-responder patients compare to the responders. The gene expression level in the AA genotype of the non-responder group was higher than to the other genotypes of both groups.
Our results showed that the gene expression level and rs7298096 genotype possibly affect the response to the IFN-β in patients with RRMS.
多发性硬化症(MS)是一种多因素炎症性和自身免疫性疾病,导致慢性神经退行性变和中枢神经系统(CNS)脱髓鞘,主要影响年轻人。MS 的发病率和患病率在种族和地理区域之间有很大差异,且女性的发病率高于男性。干扰素-β(IFN-β)是 MS 的一线疾病管理药物,而大多数受影响的患者对 IFN-β没有反应。最近的大量研究表明,遗传变异与对 IFN-β的反应之间存在显著关系。因此,确定药物反应的遗传差异有助于确定精确的治疗策略。
对 99 名接受 IFN-β治疗的 RRMS 应答者和 106 名无应答者进行 rs7298096 多态性(SNP)和 基因表达的基因分型。
rs7298096 SNP 在应答者和无应答者中的分布差异显著,无应答者的 基因表达明显高于应答者。与两组的其他基因型相比,无应答组 AA 基因型的 基因表达水平更高。
我们的研究结果表明, 基因表达水平和 rs7298096 基因型可能影响 RRMS 患者对 IFN-β的反应。