溃疡性结肠炎患者TNF-α基因启动子-308G/A单核苷酸多态性观察

摘要

目的 分析溃疡性结肠炎(UC)患者肿瘤坏死因子-α(TNF-α)基因启动子-308G/A单核苷酸多态性.方法 UC患者750例(观察组),健康体检者750例(对照组),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析两组TNF-α基因启动子-308G/A单核苷酸多态性;ELISA法检测两组血浆TNF-α.结果 观察组GG、GA、AA基因型频率及G、A等位基因频率分别为14.93％、42.27％、42.80％、36.07、63.93％,对照组分别为67.73％、16.40％、15.87％、75.93、24.07％,两组比较,P均＜0.05.观察组及对照组血浆TNF-α水平分别为(31.48±11.52)、(14.82±5.61)pg/L,两组比较,P＜0.05.观察组GG、GA、AA基因型携带者TNF-α水平分别为(17.95±7.82)、(34.32±0.75)、(34.64±13.83) pg/L,对照组分别为(10.63±3.29)、(21.25±10.47)、(21.91±8.51)pg/L,GA、AA基因型与同组GG基因型携带者比较,两组GG、GA、AA基因型携带者比较,P均＜0.05.结论 UC患者TNF-α基因启动子-308G/A存在单核苷酸多态性,GA、AA基因型是UC的易患因素,这可能与两基因型可提高患者血浆TNF-α水平密切相关.%Objective To analyze the single nucleotide polymorphisms of tumor necrosis factor-α (TNF-α) gene promoter-308G/A in patients with ulcerative colitis (UC).Methods The single nucleotide polymorphisms of TNF-α gene promoter-308G/A were analyzed in the peripheral blood leukocytes of 750 patients with confirmed UC (observation group) and 750 healthy persons (control group) by polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP).The expression of TNF-α in plasma was determined by ELISA.Results The frequencies of GG,GA,AA genotypes and G,A allele in the observation group were 14.93％,42.27％,42.80％,36.07％,and 63.93％,respectively,and 67.73％,16.40％,15.87％,75.93,and 24.07 in the control group,all P ＜0.05.The levels of TNF-α in the plasma of the observation group and control group were (31.48 ± 11.52) pg/L and (14.82 ± 5.61) pg/L,respectively (P ＜0.05).The levels of TNF-α in patients with GG,GA and AA genotypes of the observation group were (17.95 ±7.82),(34.32 ± 0.75),and (34.64 ± 13.83) pg/L,respectively,while those in the control group were (10.63 ± 3.29) and (21.25 ± 10.47),and (21.91 ± 8.51) pg/L,respectively.The differences were significant between patients with GA and AA genotypes and patients with GG genotype in the same group,and between patients with GG,GA and AA genotypes of the two groups (all P ＜ 0.05).Conclusion There is single nucleotide polymorphism of TNF-α gene promoter-308G/A in patients with UC,and GA and AA genotypes are the risk factors for UC,because they can increase the TNF-α expression in plasma.