皖北地区汉族人群Graves病与TNF-α基因启动子-238G/A及-308G/A多态性的相关性

Association between the polymorphisms of tumor necrosis factor-α gene promoter-238G/A and-308G/A sites and Graves' disease in Chinese Han population in northern Anhui region

目的:探讨肿瘤坏死因子-α(TNF-α)基因多态性与Graves病(GD)的关系。方法:用聚合酶链反应-限制性内切酶片段长度多态性分析(PCR-RFLP)检测GD患者TNF-α基因等位基因及基因型,并与健康对照组比较分析。结果:TNF-α-238位点和-308位点的等位基因及基因型分布在GD组与健康对照组之间差异无统计学意义(-238位点P分别为0.433、0.240,-308位点P分别为0.068、0.063),在不同性别GD亚组(-238位点P分别为0.185、0.233,-308位点P分别为0.339、0.144)、不同TRAb水平GD亚组(-238位点P分别为0.216、0.212,-308位点P分别为0.596、0.589)、有无甲状腺相关眼病(TAO)GD亚组(-238位点P分别为0.139、0.114,-308位点P分别为0.184、0.215)之间差异无统计学意义。结论:TNF-α-238、-308位点基因多态性与皖北地区汉族人群Graves病发病无相关性。

Objective To investigate the association between the polymorphisms of tumor necrosis factor-or （TNF-α） gene promoter and Graves＇ disease （GD） in Chinese Hans residing in northern Anhui. Methods Allele and genotype frequencies of TNF-α gene promoter -238 and -308 sites in GD patients and normal controls were determined by polymerase chain reaction and restriction fragment length polymorphism. Results Allele and genotype frequencies of TNF-α gene promoter -238 and -308 sites were not significantly different between GD group and control group （P = 0.433 and 0.240 in -238 site,P = 0.068 and 0.063 in -308 site）. There were also no significant differences between male and female GD patients （P=0.185 and 0.233 in -238 site,P=0.339 and 0.144 in -308 site）, between patients with high and low TRAb levels in earlier onset of GD （P=0.216 and 0.212 in -238 site, P=0.596 and 0.589 in -308 site）, between GD patients with and without thyroid-related ophthalmopath （TAO） （P=0.139 and 0.114 in -238 site,P=O.184 and 0.215 in -308 site）. Conclusions There was no significant association between the polymorphisms of TNF-α gene promoter -238 and -308 sites and GD in Chinese Hans population in northern Anhui region.