肿瘤坏死因子α基因多态性与多发性硬化的相关性研究

目的:研究肿瘤坏死因子α(TNFα)基因多态性与多发性硬化(MS)的相关性。方法:①采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对58例MS患者和79名健康人进行TNFα基因多态性分析。②对MS组患者分别进行扩展病残状态评分(expanded disability status scale,EDSS)、首次发病年龄、病程、发病次数临床资料收集。结果:①MS组TNFα基因型分布及等位基因频率与正常对照组比较均无明显差异(χ2=0.466,P=0.495;χ2=0.229,P=0.632)。②基因型为TNFα1/1、TNFα1/2、TNFα2/2的EDSS评分、首次发病年龄、病程及发病次数各组间比较差异均无统计学意义(F=0.53,P=0.5914;F=1.34,P=0.2699;F=0.37,P=0.6914;F=0.49,P=0.6182)。结论:TNFα等位基因多态性与MS的易患性、EDSS评分、首次发病年龄、病程及发病次数均无显著相关性。

Association between tumor necrosis factor alpha gene polymorphism and multiple sclerosis

Objective: To investigate the relationship of the tumor necrosis factor alpha(TNFα) gene polymorphism to multiple sclerosis (MS ). Methods: ①A case-control research was performed on 58 MS patients and 79 healthy individuals as control group. The gene polymorphism at position -308 in the promoter region of TNFα was screened by polymerase chain reaction (PCR) amplification and fragment length polymorphism (RFLP) assay. ② The neurologic impairment status of patients was scored according to the Expanded Disability Status Scale(EDSS),meanwhile collecting clinical data-the age at onset, the duration of disease, and the number of relapses. Results: ①No significant difference in genotype distribution and allele frequencies of TNFα existed in MS group compared with the control group (χ2=0.466,P=0.495,χ2=0.229,P=0.632,respectively). ②There was no significant difference in EDSS scores, the age at onset, the duration of disease, and the number of relapses among MS group with TNFα1/1 , TNFα1/2 and TNFα2/2 respectively (F=0.53,P=0.5914; F=1.34,P=0.2699;F=0.37,P=0.6914;F=0.49,P=0.6182,respectively). Conclusions: TNFα gene polymorphism at position -308 in the promoter region might not be associated with MS genetic susceptibility. There was no significant relationship of TNFα gene polymorphisms to EDSS scores, the age at onset ,the duration of disease and the number of relapses.