肿瘤坏死因子基因对红斑狼疮易感性的影响

付朝伟; 孟炜; 江峰; 沈福民

肿瘤坏死因子基因对红斑狼疮易感性的影响

Effect of genotypes and haplotypes of tumor necrosis factor α and β on the susceptibility of Systemic Lupus Erythematosus

摘要

摘要:
目的探讨华东地区汉族人群中肿瘤坏死因子α、β基因突变及其单倍型对系统性红斑狼疮(SLE)的易感性影响。
方法运用聚合酶链式反应-限制性片段长度多态(PCR-RFLP)对99例SLE患者、116例健康对照进行肿瘤坏死因子(TNF)α、TNFβ基因分型, 进行分层分析, 同时进行单倍型连锁不平衡分析。
结果在我国华东地区汉族人群中, 与未携带突变等位基因的TNFα1-TNFβ1基因型相比, TNFα1-TNFβ2和TNFα2-TNFβ1突变基因型患SLE的危险性均有所升高(OR=2.31, 95.0%CI=0.99~5.57;OR=2.60, 95.0%CI=0.47~13.86), 而TNFα2-TNFβ2突变基因型个体患SLE的危险性升高接近10倍(OR=9.53, 95.0%CI=1.88~61.17).同时, 不同基因型的个体患SLE的危险性随着携带突变基因增加明显增加(=10.16, P=0.001).两位点等位基因之间存在连锁不平衡(精确P=0.000), 病例和对照中TNFα2-β1和TNFα1-β2以及TNFα1-β1单倍型分布不同, TNFα2-β1和TNFα1-β2可能为SLE的易感单倍型(P < 0.05)。
结论肿瘤坏死因子α和β基因突变及其易感单倍型可能增加了SLE的易感性。

Abstract:
Objective To make sure whether there was any association between genotypes and haplotypes of tumor necrosis factor(TNF)α, β and SLE.
Methods PCR-RFLP method was used to type the genotype of the subjects.A case-control study was carried out including 99 SLE patients and 116 health controls from East China.
Results Compared with subjects with the genotype of TNFα1-TNFβ1, those with TNFα1-TNFβ2, TNFα2-TNFβ1 or TNFα2-TNFβ2 had higher risk of suffering from SLE(OR=2.31, 95.0%CI: 0.99-5.57;OR=2.60, 95.0%CI: 0.47-13.86;OR=9.53, 95.0%CI: 1.88-61.17).And there was a trend of increasing risk among different genotypes(χ²=10.16, P=0.001).The linkage disequi- librium was observed in subjects under study with TNFα and TNFβ(exact P=0.000).There were two types of susceptible haplotypes i.e.TNFα2-β1 and TNFα1-β2(P < 0.05).
Conclusion There were statistical associations between genotypes and haplotypes of tumor necrosis factor(TNF)α, β and SLE.

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