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CD40基因多态性与Graves病的相关性研究 被引量：3

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摘要 目的:观察CD40基因启动子区多态性在中国汉族人群中的分布频率及其与Graves病易感性的关系。方法:应用聚合酶链反应-直接测序法对367例Graves病患者和373例正常对照者CD40基因启动子区多态性进行检测,分析该基因多态性与Graves病的相关性。结果:中国汉族人群CD40基因启动子区存在两处变异:-295C/T和-1C/T,两位点紧密连锁,D′=0.98。两位点基因型、等位基因型和单倍型分布频率在病例-对照比较中均无统计学差异。但在女性人群中,-295T和-1C与Graves病有明显关联,P值分别为0.025和0.011;单倍型CT在女性病例组和对照组的频率分别为36%和44%,P=0.007。结论:CD40基因启动子区多态性可能与女性Graves病发病有关,但与男性Graves病发病无关。
作者 孙玲玲 褚迅 黄薇 毕富勇
机构地区 皖南医学院生化教研室 国家人类基因组南方研究中心
出处 《实用医学杂志》 CAS 2007年第5期655-657,共3页 The Journal of Practical Medicine
基金 安徽省高校青年教师科研资助计划基金资助(编号:2005jq1187)
关键词 格雷夫斯病 CD40基因 单核苷酸多态性
分类号 R581.1 [医药卫生—内分泌]
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参考文献8

  • 1Metcalfe R A, Mcintosh R S, MarelLi-Berg F, et al. Detection of CD40 on human thyroid follicular cells: analysis of expression and function [J]. J Clin Endocrinal Metab, 1998, 83(4):1268-1274.
  • 2Jacobson E M, Concepcion E, Oashi T, et al. A Graves' disease associated KOZAK sequence SNP enhance the efficiency of CD40 gene translation: a case for translational pathophyology [J].Endocrinology, 2005, 146 (6) : 2684-2691.
  • 3Tomer Y, Concepcion E, Greenberg D A. A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease [J]. Thyroid, 2002,12(12) : 1129-1235.
  • 4Kim T Y, Park Y J, Hwang J K, et al.A C/T polymorphism in the 5'-untranslated region of the CD40 gene is association with Graves' disease in Koreans [J]. Thyroid, 2003,13(10) :919-925.
  • 5Houston F A, Wilson V, Jennings C E, et al. Role of the CD40 locus in Graves' disease [J]. Thyroid, 2004, 14(7) :506-509.
  • 6Heward J M, Simmonds M J, Carr-Smith J, et al. A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2)provides no evidence for susceptibility to Graves' disease in UK Caucasians [J]. Clin Endocrinol (Oxf),2004,61(2):269-272.
  • 7Mukai T, Hiromatsu Y, Fukutani T, et al. A C/T polymorphism in the 5'-untranslated region of the CD40 gene is association with later onset of Graves' disease in Japanese [J]. Endocr J, 2005,52(4) : 471-477.
  • 8Ban Y, Tozaki T, Taniyama M, et al. Association of a C/T single-nucleotide polymorphism in the 5' untranslated region of the CD40 gene with Graves' disease in Japanese [J]. Thyroid, 2006,16(5):443-446.

同被引文献50

  • 1罗惠辛,张鹏,邱明才.Graves病甲亢和CD40基因单核苷酸多态性的相关性[J].天津医药,2006,34(4):229-230. 被引量：4
  • 2BANCHEREAU J, BAZAN F, BLANCHARD D, et al. The CD40 antigen and its ligand[J]. Annu Rev Immunol,1994 ,12 :881 -922.
  • 3TOMER Y, CONCEPCION E, GREENBERG D A, et al. A C/T single nucleotide polymorphism in the Region of the CD40 Gene is Associated with Graves' Disease [ J]. Thyroid, 2002, 12 (12) : 1 129-1 135.
  • 4KIM T Y, PARK Y J, HWANG J R, et al. A C/T Polymorphism in the 5' - untranslated region of the CD40 gene is associated with Graves' disease in Koreans[J]. Thyroid, 2003, 13(10) : 919 -925.
  • 5MUKAI T,HIROMATSU Y J, FUKUTANI T, et al. A C/T polymorphism in the untranslated region of the CD40 Gene is associated with later onset of Graves' disease in Japanase[ J]. Endocrine J, 2005, 52(4) : 471 -477.
  • 6BAN Y, TOZAKI T, TANIYAMA M, et al. Association of a C/T single - nucleotide polymorphism in the 5' untranslated region of the CD40 gene with Graves' disease in Janpanese [ J]. Thyroid, 2006, 16(5) : 443 -446.
  • 7HOUSTON F A, WILSON V, JENNINGS C E, et al. Role of the CD40 locus in Graves' Disease[J]. Thyroid, 21304, 14(7) : 506 -509.
  • 8HEWARD J M, SIMMONDS M J, CARR SMITH J, et al. A single nucleotide polymorphism in the CD40 gene on chromosome 20q(GD - 2) provides no evidence for susceptibility to Graves' disease in UK Caucasians[J]. Clin Endocfinol, 2004, 61 (2) : 269-272.
  • 9KURYLOWICZ A, KULA D, PLOSKI R, et al. Association of CD40 gene polymorphism (C -IT) with susceptibility and phenotype of Graves'disease[J]. Thyroid, 2005, 15(10): 1 119-1 122.
  • 10龚非力,熊思东,李卓娅,等.医学免疫学[M].3版.北京:科学出版社,2012:70-80.

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实用医学杂志
2007年 第5期

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