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The relavence of tumor necrosis factor-α gene-863C/A polymorphism with thyroid-associated ophthalmopathy
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OPHTHALMOLOGY
- Issue:
- 9
- DOI:
- 10.3760/j:issn:0412-4081.2005.09.005
- Key Word:
- 格雷夫斯病;肿瘤坏死因子;基因;多态性,限制性片断长度
Abstract： 目的探讨肿瘤坏死因子α(TNF-α)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(PCR-RFLP)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)TNF-α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 TNF-α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.
- [1]Kumar S,Bahn RS.Relative overexpression of macrophage-derived cytokines in orbital adipose tissue from patients with graves' ophthalmopathy.[J].2003,88(9).
- [2]Kimura A,Yamada A,Itoh K,etc.Polymorphism of the 5'-flanking region of the human tumor necrosis factor (TNF)-alpha gene in Japanese.[J].1998,51(6).
- [3]Kwiatkowski D,Udalova IA,Richardson A,etc.Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region.[J].2000,20(24).
- [4]Inoue Y,Nonaka K,Miyake I,etc.Cytokine profiles in eye muscle tissue and orbital fat tissue from patients with thyroid-associated ophthalmopathy.[J].2000,85(3).
- [5]孙传良,刁幼华编著.甲状腺功能亢进症[M].2001.
- [6]Pinchera A,Marcocci C,Bartalena L.Management of Graves' ophthalmopathy: reality and perspectives.[J].2000,21(2).
- [7]Weetman AP,Hunt PJ.The immunogenetics of thyroid-associated orbitopathy.[J].1999,107(Suppl.5).
- [8]Eriksson P,van't Hooft-FM,Nilsson J,etc.A common functional polymorphism (C-->A substitution at position -863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha.[J].1999,8(8).
- [9]N, MANTEL,W, HAENSZEL.Statistical aspects of the analysis of data from retrospective studies of disease.[J].1959,22.