肿瘤坏死因子-α基因多态性与安徽地区汉族人群Graves病的相关性研究

Association between TNF-α Gene Polymorphisms and Graves' Disease among Han Chinese in Anhui

目的探讨肿瘤坏死因子-α(TNF-α)基因-863、-857、-238三个位点多态性与安徽地区汉族人Graves病(GD)发病易感性的关系。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,检测和比较254例GD患者和212例正常对照者的TNF-α-863、-857、-238位点基因型和等位基因的频率。结果 TNF-α-863位点A等位基因GD组频率(16.73%)高于正常对照组(11.79%),P<0.05,OR=1.503;AA+CA基因型频率GD组(32.68%)明显高于正常对照组(23.58%),P<0.05,OR=1.573。TNF-α-857、-238两位点基因型及等位基因频率在两组间比较差异无显著性。将GD组按性别分层后比较,-863、-857、-238三个位点的基因型及等位基因频率在不同性别间差异均无显著性。结论 TNF-α-863位点基因多态性与安徽地区汉族人GD发病有相关性,而-857、-238位点基因多态性与安徽地区汉族人GD发病无明显相关性。

Objective To investigate the association of tumor necrosis factor-α （TNF-α gene polymorphisms at position -863, -857, -235 with Graves＇ disease （GD） among Han Chinese in Anhui province. Methods The genotype and allele frequencies of TNF-α gene at position -863, -857, -235 were measured and compared in 254 patients with GD and 212 normal controls by polymerase chain reaction-sequence specific primers （PCR-ssp） method. Results The A allele frequency （16.73%） of -863 locus in GD group was significantly higher than that （11.79%） in normal control group （P〈0.05, OR-1.503）; the frequency of AA＋CA genotype （32.68%） of -863 locus in GD group was significantly higher than that （23.58%） in normal control group （P〈0.05, OR=1.573）. The genotype and allele frequencies of TNF-α at position -857, -238 had no significant difference between two groups. There were no significant difference （P〉0.05） of the frequencies distribution of allele and genotype of -$63, -857, -238 loci between male and female patients with GD. Conclusion The gene polymorphism of TNF-α at position -863 is related with GD susceptibility in Han Chinese population in Anhui region, but at position -857 and -238 are not.