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目的探讨肿瘤坏死因子(tumor necrosis factor,TNF)-α启动子区域-308位点基因多态性与重症肌无力(myasthenia gravis,MG)的相关性。方法采用聚合酶链反应及基因测序技术检测289例MG患者与304名健康对照者TNF-α-308位点的基因型及等位基因分布频率,进一步根据MG患者性别、年龄、临床分型等进行分组,比较各组间TNF-α-308位点基因型及等位基因分布频率的差异。结果 MG患者及健康对照组均未发现A/A基因型;MG患者TNF-α启动子-308位点G/A基因型和等位基因A出现的频率与健康对照组比较差异无统计学意义(P>0.05)。相同性别间比较,男性MG组G/A基因型(P=0.025,OR=2.673,95%CI:1.105～6.467)及A等位基因(P=0.029,OR=2.533,95%CI:1.071～5.991)出现的频率高于健康对照组;发病年龄<40岁的MG组,全身型G/A基因型(P=0.004,OR=4.760,95%CI:1.533～14.778)及A等位基因(P=0.005,OR=4.298,95%CI:1.450～12.740)出现的频率高于眼肌型。结论 TNF-α-308位点多态性与中国北方地区男性MG患者及早发全身型MG患者发病相关。
Objective To investigate the association of gene -308 locus polymorphism with myasthenia gravis (MG) in the promoter region of tumor necrosis factor (TNF) -α. Methods The genotype and allele frequencies of TNF-α-308 locus in 289 MG patients and 304 healthy controls were detected by polymerase chain reaction and gene sequencing. According to the genotype and allele frequency of MG patients, The differences of the genotype and allele frequencies of TNF-α-308 loci in each group were compared. Results No A / A genotype was found in MG patients and healthy controls. The frequency of G / A genotype and allele A at -308 site of TNF-α promoter in MG patients was not significantly different from that in healthy controls (P> 0.05). In the same sex, the G / A genotype (P = 0.025, OR = 2.673, 95% CI: 1.105-6.467) and A allele (P = 0.029, OR = 2.533, 95% CI: 1.071 ~ 5.991) was higher than that of the healthy control group. The MG genotype of age <40 years old had significantly higher G / A genotype (P = 0.004, OR = 4.760, 95% CI: 1.533-14.778) and A allele P = 0.005, OR = 4.298, 95% CI: 1.450-12.740) appeared higher than the ocular muscle type. Conclusion The polymorphism of TNF-α-308 locus is associated with the onset of MG and early-onset MG in northern China.