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目的:研究肿瘤坏死因子β(TNFβ)基因多态性与西方型、亚洲型多发性硬化(MS)的相关性。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对22例西方型MS患者、36例亚洲型MS患者和79名健康人进行TNFβ基因多态性分析。对两型MS组患者分别进行神经功能缺损程度的扩展病残状态(EDSS)评分、首发年龄、病程、发病次数等临床资料收集。结果:①亚洲型MS组TNFβ1等位基因频率为51.39%,较健康人(27.85%)明显升高(P<0.01)。②西方型MS组与亚洲型MS组基因型为TNFβ1/1、TNFβ1/2、TNFβ2/2的EDSS评分组间比较差异均无统计学意义(P>0.05)。③两亚型在EDSS评分、首发年龄、性别、病程、发病次数诸方面均无统计学意义。结论:TNFβ1等位基因与亚洲型MS的易患性有关。TNFβ基因多态性与EDSS评分无明显相关性。
Objective: To investigate the relationship between polymorphism of tumor necrosis factor β (TNFβ) gene and Western and Asian multiple sclerosis (MS). Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze TNFβ gene polymorphisms in 22 Western MS patients, 36 Asian MS patients and 79 healthy controls. Patients in both MS groups were enrolled in the clinical data collection of EDSS score, initial age, course of disease, frequency of onset and so on. Results: ① The frequency of TNFβ1 allele in Asian MS group was 51.39%, which was significantly higher than that in healthy people (27.85%) (P <0.01). ② There was no significant difference in EDSS scores between Western MS group and Asian MS genotype for TNFβ1 / 1, TNFβ1 / 2 and TNFβ2 / 2 (P> 0.05). ③ The two subtypes had no statistical significance in the aspects of EDSS score, starting age, sex, course of disease and frequency of onset. Conclusion: The TNFβ1 allele is associated with susceptibility to Asian MS. TNFβ gene polymorphism and EDSS score no significant correlation.