肿瘤坏死因子-β基因多态性对子宫内膜异位症患者血清中TNF浓度的影响

目的:研究内异症患者及非内异症妇女肿瘤坏死因子-β(tumor necrosis factors-beta, TNF-β)基因 252位点的多态性与两组血清中TNF浓度的关系,力求在基因水平上探讨内异症发病的机制.方法:应用聚合酶链反应-限制性片段长度多态性技术(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)检测82例内异症患者(内异症组)和80例非内异症妇女(对照组)TNF-β基因 252位点的多态性,同时采用酶联免疫吸附法(sandwich-enzyme-linked immunosorbent assay, ELISA)检测两组血清中TNF-α和TNF-β的含量.结果: 结果发现内异症组TNF-β基因 252位点AA基因型血清中TNF-β水平较GG基因型TNF-β水平明显升高(t=2.029,P＜0.05),而内异症和对照组TNF-β基因 252位点其他基因型对血清中TNF-α和TNF-β浓度的影响相比,差异无统计学意义.结论:TNF-β基因 252位点AA基因型可能是促进内异症患者血清中TNF-β水平升高的原因之一.

Effect of gene polymorphism of TNF-β on the concentration of TNF in serum of patient with endometriosis

OBJECTIVE: To determine the polymorphism in +252 site of tumor necrosis factor-beta(TNF-beta) gene in patients with or without endometriosis, to evaluate the levels of TNF-alpha and TNF-beta in the serum with or without endometriosis, to explore the relation between polymorphism of TNF-beta gene and the genetic susceptibility of endometriosis, and to explore the pathogenic mechanism of endometriosis at gene level. METHODS: By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, polymorphism on +252 site of TNF-beta gene was measured in 82 patients with endometriosis (the endometriosis group) and 80 patients without endometriosis (the control group). With the sandwich-enzyme-linked immunosorbent assay (ELISA), the levels of TNF-alpha and TNF-beta in the serum of the two groups were determined. RESULTS: The TNF-beta level in the serum in the endometriosis group with TNF-beta gene +252 site AA genotype significantly increased, compared with GG genotype (t=2.029, P<0.05); while TNF-alpha and TNF-beta level in the serum had no statistical significance in patients with other genotypes in TNF-beta gene +252 site in the endometriosis group and the control group. CONCLUSION: TNF-beta gene +252 site AA genotype might be enhance TNF-beta level in the serum of patients with endometriosis.