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

作　　者：付朝伟[1] 孟炜[1] 江峰[1] 沈福民[1] 

机构地区：[1]复旦大学公共卫生学院流行病学教研室,上海200032

出　　处：《中国公共卫生》2005年第1期81-82,共2页Chinese Journal of Public Health

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(χ2趋势=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。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 disequilibrium was observed in subjects under study with TNFα and TNF β(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.

关 键 词：系统性红斑狠疮 肿瘤坏死因子α、β易感性 单倍型 

分 类 号：R758.62[医药卫生—皮肤病学与性病学]