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评估凋亡相关基因:Fas(CD94)、FasL(CD178)和 TRAIL 多态性在伊朗多发性硬化症患者中的作用。

Evaluation of apoptosis-related genes: Fas (CD94), FasL (CD178) and TRAIL polymorphisms in Iranian multiple sclerosis patients.

机构信息

Department of Immunology, Faculty of Medical Science, Tarbiat Modares University, Tehran, Iran.

出版信息

J Neurol Sci. 2012 Jan 15;312(1-2):166-9. doi: 10.1016/j.jns.2011.07.037. Epub 2011 Aug 23.

Abstract

Multiple sclerosis (MS) is a central nervous system (CNS) demyelinating disease characterized by a relapsing-remitting course leading to progressive disability. Given the critical role of apoptosis-related genes in the maintenance of homeostasis in the immune privilege sites, mutations in these genes have a profound effect on occurring autoimmune diseases such as multiple sclerosis. In the current study, polymorphisms in the apoptosis-related genes: Fas _-670 A>G, FasL _-844C>T, FasLIVS2nt 124 A>G and TRAIL_1595C>T were analyzed in 107 Iranian patients suffering from MS and 112 unrelated healthy controls using PCR-RFLP method. Our results demonstrated that among Iranian patients with MS and controls being homozygous in Fas_670A/A, G/G and FasL-844C/C, TT in the promoter region and homozygocity in the minor allele for FasLIVS2nt_124G/G and TRAIL_1595C/C, polymorphisms were not associated with the MS risk in Iranian patients when compared with normal controls. However, the Fas _-670G/G genotype had a borderline significantly increased frequency with secondary progressive MS type (X(2)=5.8, P=0.05). In conclusion, no statistical association was found between the Fas, FasL and TRAIL polymorphisms and the risk of MS in Iranian patients.

摘要

多发性硬化症(MS)是一种中枢神经系统(CNS)脱髓鞘疾病,其特征是反复发作导致进行性残疾。鉴于凋亡相关基因在免疫特权部位维持体内平衡中的关键作用,这些基因的突变对发生多发性硬化症等自身免疫性疾病有深远的影响。在本研究中,采用 PCR-RFLP 方法分析了 107 名伊朗多发性硬化症患者和 112 名无关健康对照者中凋亡相关基因:Fas _-670A>G、FasL _-844C>T、FasLIVS2nt 124A>G 和 TRAIL_1595C>T 的多态性。我们的结果表明,在伊朗多发性硬化症患者和对照组中,Fas_670A/A、G/G 和 FasL-844C/C、TT 纯合子在启动子区域和 FasLIVS2nt_124G/G 和 TRAIL_1595C/C 中的次要等位基因纯合性与 MS 风险无关。然而,Fas _-670G/G 基因型与继发性进行性 MS 类型具有边缘显著升高的频率(X(2)=5.8,P=0.05)。总之,在伊朗患者中,Fas、FasL 和 TRAIL 多态性与 MS 的风险之间没有统计学关联。

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