肿瘤坏死因子α基因多态性及其与系统性红斑狼疮的相关性

目的 探讨人类肿瘤坏死因子α基因多态性与中国汉族人系统红斑狼疮易感性及临床表现的关系。方法 采用聚合酶链反应单链构象多态性方法,检测８９例ＳＬＥ病人及７０例正常人ＴＮＦα基因的ＴＮＦ１及ＴＮＦ２基因亚型,同时用序列特异性引物方法,检测人类白细胞抗原ＨＬＡ－ＤＲ２基因频率,并分析它们之间的相互关系。

Study on the association between tumor necrosis factor alpha gene polymorphism and systemic lupus erythematosus

Objective To examine whether polymorphism within the tumor necrosis factor (TNF) gene is associated with the susceptibility and clinic manifestations to systemic lupus erythematosus (SLE) in the patients of Han ethnic group collected from the Northern China. Methods TNF1 and TNF2 subtypes of TNF gene were defined by polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) analysis in 89 Chinese patients with SLE and 70 ethnically matched controls from Peking Union Medical College Hospital. All SLE patients were diagnosed by the American Rheumatological Association SLE diagnostic criteria setup in 1982. Human leukocyte antigen (HLA)DR2 gene frequency was assigned by PCR with sequencespecific primers (SSPPCR). Results The frequencies of TNF2 and HLADR2 were significantly increased in SLE patients respectively compared to that of the controls (0.23 vs 0.14, RR=1.85, P<0.05; 0.36 vs 0.22, RR=2.02, P<0.01). Both TNF2 and HLADR2 were associated with SLE independently (RR=3.96, P<0.05; RR=3.07, P<0.05), but there was no association between the two genes. In TNF2 positive patients, the positive rate of antiSSA antibody was apparently higher and the incidence of lupus nephritis was significantly increased. Conclusion Both TNF2 and HLADR2 gene may play a role in SLE susceptibility. AntiSSA antibody and lupus nephritis were strongly associated with TNF2 gene.