皖北地区汉族人群ctla-4基因单核苷酸多态性与graves病 graves眼病相关性研究-study on the correlation between ctla - 4 gene single nucleotide polymorphism and graves ophthalmopathy in han nationality in northern anhui province.docxVIP

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皖北地区汉族人群ctla-4基因单核苷酸多态性与graves病 graves眼病相关性研究-study on the correlation between ctla - 4 gene single nucleotide polymorphism and graves ophthalmopathy in han nationality in northern anhui province.docx

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皖北地区汉族人群ctla-4基因单核苷酸多态性与graves病 graves眼病相关性研究-study on the correlation between ctla - 4 gene single nucleotide polymorphism and graves ophthalmopathy in han nationality in northern anhui province

基因；但该位点与皖北地区汉族人群 GO 的发病无关联。关键词：Graves 病；Graves 眼病；CTLA-4 基因；单核苷酸多态性。Association of SNPof the CTLA-4 gene with Graves’ disease and Graves’ ophthalmopathy among the Han population in the northern part of Anhui provinceABSTRACTObjective The aim of the study is to investigate the association of Graves’ disease(GD) and Graves’ ophthalmopathy (GO)with the A/G SNP at position 60 of 3’ untranslated region and the C/T single nucleotide polymorphism (SNP) at position-318 of promoter within cytotoxic T lymphocyte associated antigen-4 (CTLA-4)gene. Methods102 unrelated patients with Graves’ disease （ 37 with Graves’ ophthalmop ,65 normal） and 80 controlsubjectswere involvedin the study. Allsubjects with Han ethnicity live in the northern part of ANHUI province. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allele frequencies between the groups.Results .The gene frequencies of C/T and allele frequencies of T at position -318 were much higher in Graves’ patients with ophthalmopathy than that in the groupwithout ophthalmopathy （p=0.000，p=0.020）. The gene frequencies of G/G andallele frequencies of G at position 60 in patients with Graves’ disease were significantly increased as compared with control group （P=0.006，P=0.014）。 Conclusion Our results suggest that an allele of T at position ?318 of promoter isassociated with genetic susceptibility to Graves’ ophthalmopathy while an allele of G at position 60 of 3’ untranslated region is associated with genetic susceptibility to Graves’ disease instead.Key words Graves’disease, Graves’ophthalmopathy , CTLA-4 gene，SNP前言1. 研究背景Graves 病又称 Basedow 病、弥漫性毒性甲状腺肿,是一种甲状腺激素增多的器官特异性自身免疫性疾病。GD 是甲状腺功能亢进症的最常见病因，约占 80%-85%。其临床特征是：甲状腺毒症、弥漫性甲状腺肿，突眼、自身抗体-抗 TSH 受体抗体（TRAb）阳性。GD 影响 1.2%的西方人口，（0.5%临床患者，0.7% 亚临床患者[1]），和 0.25-1.09%的中国人口[2] .多见于成年女性，以 20-40 岁较多见，男女比例为 1：4-6。尽管感染和压力等环境因素在 GD 易感人群的发病中起着重要作用，但对双胞胎的研究[3]显示约有 80%的 GD 易患性是由基