肿瘤坏死因子α,β基因多态性与多发性硬化关系的研究

Relationship between gene polymorphism of TNF-α,β and multiple sclerosis

目的:研究肿瘤坏死因子α(TNF-α)-308G/A多态性、肿瘤坏死因子β(TNF-β)+252A/G多态性与多发性硬化症(MS)的相关性.方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对62例MS患者和60名无血缘关系的健康人TNF-α基因-308G/A和TNF-β基因+252A/G多态性进行分析,并对MS组患者进行临床EDSS评分.结果:TNF-α-308G/A各基因型频率和等位基因频率在MS组和正常对照组之间差异无统计学意义.TNF-β1/1基因型频率较对照组明显升高(P<0.05),TNF-β1等位基因频率较对照组明显升高(P<0.01).TNF-β1/1,1/2,2/2三种基因型中,EDSS评分、首次发病年龄、病程、发病次数相比较,差异均无统计学意义.结论:江苏省汉族人群中,TNF-α-308G/A基因多态性与MS无关.TNF-β1基因多态性与MS有关,但和EDSS评分、首次发病年龄、病程、发病次数无关.

AIM：To explore the association of gene polymorphism of TNF-α-308G/A and TNF-β ＋252A/G with multiple sclerosis（MS）.METHODS：The gene polymorphism of TNF-α-308G/A and TNF-β ＋252A/G was amplified by polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP）in 62 cases with MS and in 60 normal health people,and EDSS scores were conducted for MS group.RESULTS：The genotype and alleles frequency of TNF-α-308G/A had no difference between MS and control group（P〉0.05）.The genotype frequency and alleles frequency of TNF-β1/1 were higher than those in control group（P〈0.05）.The TNF-β1/1,1/2 and 2/2 genotype were not associated with EDSS scores,initial age of onset,course of disease,and frequency of relapse（P〉0.05）.CONCLUSION：In Han nationality of Jiangsu Province,the gene polymorphism of TNF-α-308G/A is not associated with MS.Gene polymorphism of TNF-β1 is associated with MS,but not associated with EDSS scores,initial age of onset,course of disease,and frequency of relapse.