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目的探讨肿瘤坏死因子α(TNFα)基因启动子区863C/A多态性与甲状腺相关眼病(TAO)的相关性。方法选择2002年7月至2003年12月于我院内分泌门诊就诊的符合本研究入选标准的患者和正常对照者,并抽取外周抗凝血提取基因组DNA,采用多聚酶链反应限制性片段长度多态性(PCRRFLP)方法检测76例正常对照者(对照组)、54例TAO患者(TAO组)和60例自身免疫性甲状腺疾病(AITD)无眼病患者(无眼病组)TNFα基因863C/A多态性。分析比较此多态位点的基因型和等位基因频率在不同人群中分布的差异。结果(1)TAO组、无眼病组及对照组CA+AA基因型频率分别为46.3%、30.0%、25.0%,A等位基因频率分别为27.8%、15.0%、12.5%。(2)TAO组A等位基因频率显著高于无眼病组和对照组(P=0.018,P=0.002)。(3)按性别分层后,TAO组男性患者CA+AA基因型与A等位基因频率均显著高于对照组男性(OR=4.31,P=0.019;OR=4.81,P=0.003)和无眼病组男性患者(OR=4.87,P=0.027;OR=5.38,P=0.008);而女性患者组间比较差异无统计学意义(均P>0.05)。(4)TAO组ATA分级5+6级眼病患者CA+AA基因型和A等位基因的频率均显著高于无眼病组(OR=20.68,P=0.021;OR=39.67,P<0.001)。结论TNFα基因启动子区863位点A等位基因可能是TAO尤其是男性TAO患者的易感基因。
Objective To investigate the association of 863C / A polymorphism in tumor necrosis factor α (TNFα) gene promoter region with thyroid associated ophthalmopathy (TAO). Methods From July 2002 to December 2003 in our hospital endocrine clinic in line with the inclusion criteria of this study were selected patients and normal controls, and extracted peripheral anticoagulant blood genomic DNA extraction, using polymerase chain reaction restriction fragment length polymorphism The polymorphisms of TNFα gene 863C / A in 76 patients with normal controls (control group), 54 patients with TAO (TAO group) and 60 patients without autoimmune thyroid disease (AITD) without eye disease (no eye disease group) were detected by PCR (PCR) Sex. Analysis and comparison of the polymorphic loci genotypes and allele frequencies in different populations distribution differences. Results (1) The frequencies of CA + AA genotype in TAO group, non-ophthalmopathy group and control group were 46.3%, 30.0% and 25.0%, respectively. The frequency of allele A was 27.8%, 15.0% and 12.5% respectively. (2) The frequency of allele A in TAO group was significantly higher than that in non-ocular disease group and control group (P = 0.018, P = 0.002). (3) After stratified by sex, the frequencies of CA + AA genotype and A allele in TAO group were significantly higher than those in control group (OR = 4.31, P = 0.019; OR = 4.81, P = 0.003) (OR = 4.87, P = 0.027; OR = 5.38, P = 0.008). There was no significant difference between the female patients (all P> 0.05). (4) The frequencies of CA + AA genotype and A allele in TAO group with ATA grade 5 + 6 eye disease were significantly higher than those without eye disease group (OR = 20.68, P = 0.021; OR = 39.67, P <0.001). Conclusion A allele at 863 in TNFα gene promoter region may be a susceptible gene in TAO patients, especially in male TAO patients.