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目的探讨2010~2014年青海省高原地区甲状腺眼病患者CTLA-4基因多态性与疾病的关联。方法选取西宁地区12所医院收治的72例Graves病患者,将其中合并有甲状腺眼病的31例患者作为试验A组,其余41例单纯Graves病患者作为试验B组,另选取40例同年龄段正常健康人群作为对照组。所有研究对象均取全血对CTLA-4基因启动因子-318位、CT60位和外显子1+49位基因型分布和等位基因频率进行检测对比,分析上述位点基因多态性和等位基因频率分别和高原地区甲状腺眼病关联。结果三组研究对象CTLA-4基因-318位基因型分布比较,差异无统计学意义(P>0.05),而CT60位点和外显子1+49位点基因型分布比较差异有统计学意义(P<0.05),其中每两组间差异均有统计学意义(P<0.05);甲状腺眼病和CTLA-4基因启动因子-318位点等位基因频率无明显关联,和CT60位点A和外显子1+49位点A基因频率存在显著负向关联,而和两位点G基因频率均存在明显正向关联。结论高原地区甲状腺眼病和CTLA-4基因CT60位点和外显子1+49位点多态性均存在明显关联,A等位基因频率降低,G等位基因频率升高,甲状腺眼病患病风险增加。
Objective To investigate the relationship between CTLA-4 gene polymorphisms and diseases in thyroid eye patients from 2010 to 2014 in Qinghai Plateau. Methods Seventy-two patients with Graves’ disease admitted from 12 hospitals in Xining district were enrolled in this study. Twenty-one patients with thyroid eye disease were selected as experimental group A and the other 41 patients with pure Graves disease were selected as experimental group B. Forty patients with the same age were selected as normal group Healthy people served as control group. All subjects were taken whole blood on the CTLA-4 promoter -318, CT60 and exon 1 49 genotype distribution and allele frequencies were detected and compared to analyze the site genetic polymorphism and so on The gene frequencies were respectively associated with thyroid eye disease in the plateau. Results There was no significant difference in the genotype distribution of CTLA-4 between the three groups (P> 0.05), but there was significant difference in genotype distribution between CT60 locus and exon 1 + 49 (P <0.05), and the difference between the two groups was statistically significant (P <0.05). There was no significant correlation between thyroid eye disease and allele frequency of CTLA-4 promoter-318 locus, There was a significant negative correlation between the frequencies of exon 1 + 49 A alleles and the positive frequencies of both G genes. Conclusions There is a clear correlation between thyroid eye disease and CTLA-CT60 locus and exon 1 + 49 locus polymorphism of CTLA-4 gene in plateau area. The frequency of allele A is lower and the frequency of G allele is higher. The risk of thyroid eye disease increase.