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TGFβ1基因单核苷酸多态性与疾病的关系 被引量：6

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摘要 转化生长因子β1(transforming growth factorβ1,TGFβ1)是TGFβ家族的重要成员之一,现在其染色体定位、基因结构、基因表达、蛋白结构、受体结合、信号转导、生物学效应等均基本明确。而自从发现其单核苷酸多态性(single nu-cleotide polymorphisms,SNP)以来,越来越多的研究发现其与多种疾病的发生发展相关。文章综述了TGFβ1基因单核苷酸多态性与多种疾病的相关性,并在此基础上就其具体机制进行了复习,以进一步了解TGFβ1在多种疾病中的病理意义及可能的预防、诊断、治疗前景。
作者 季鑫 高春芳
机构地区 第二军医大学东方肝胆医院实验诊断科
出处 《现代免疫学》 CAS CSCD 北大核心 2009年第2期165-168,共4页 Current Immunology
基金 国家自然科学基金资助项目(30770994)
关键词 TGFΒ1 单核苷酸多态性 SNP 疾病
分类号 R392.12 [医药卫生—免疫学]
  • 相关文献

参考文献20

  • 1Gewaltig J, Mangasser-Stephan K, Gressner AM, et al. Association of polymorphisms of the TGFβ1 gene with the rate of progression of HCV-induced liver fibrosis[J]. Clin Chim Acta , 2002,316:83-94.
  • 2Watanahe Y, Kinoshita A, Matsumoto N, et al. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway[J]. J Hum Genet, 2002,47 : 478-483.
  • 3Park BL, Han IK, Shin HD, et al. Identification of novel variants in transforming growth factor-beta 1 (TGFβ1) gene and association analysis with bone mineral density[J]. Hum Mutat, 2003,22:257-258.
  • 4Dunning AM, Ellis PD, Metcalfe JC, et al. A TGFβ1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer[J].Cancer Res, 2003, 63:2610-2615.
  • 5Colakogullari M, Ulukaya E, Aymak F, et al. The involvement of IL-10, IL-6, IFN-gamma, TNF- alpha and TGF-beta gene polymorphisms among Turkish lung cancer patients[J]. Cell Biochem Funct, 2008, 26:283-290.
  • 6Li T, Cao BW, Xu CQ, et al. Correlation of transforming growth factor beta-1 gene polymorphisms C-509T and T869C and the risk of gastric cancer in China[J]. J Gastroenterol Hepatol, 2008, 23:638-642.
  • 7杨再兴,王皓,高春芳,徐玲玲,赵文静.转化生长因子β1基因多态性对乙型肝炎肝硬化的影响[J].中华医学杂志,2005,85(15):1021-1026. 被引量：28
  • 8Sugiura Y, Niimi T, Sato S, et al. Transforming growth factor beta1 gene polymorphism in rheumatoid arthritis[J]. Ann Rheum Dis, 2002,61:826-828.
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  • 10Yamada H, Watanabe M, Nanba T, et al. The +869T/ C polymorphism in the transforming growth factor-beta 1 gene is associated with the severity and intractability of autoimmune thyroid disease[J]. Clin Exp Immunol, 2008, 151: 379-382.

二级参考文献16

  • 1HaoWang,SenaitMengsteab,CarmenG.Tag,Chun-FangGao,ClausHellerbrand,FrankLammert,AxelM.Gressner,RalfWeiskirchen.Transforming growth factor-β1 gene polymorphisms are associated with progression of liver fibrosis in Caucasians with chronic hepatitis C infection[J].World Journal of Gastroenterology,2005,11(13):1929-1936. 被引量：14
  • 2Zhi-guang SU~2, Fu-qiang WEN, Yu-lin FENG, Min XIAO, Xiao-ling WU Laboratory of Pulmonary Medicine, West China Hospital, Sichuan University,Key Laboratory of Biotherapy of Human Disease, Ministry of Education, Chengdu 610041, China.Transforming growth factor-β1 gene polymorphisms associated with chronic obstructive pulmonary disease in Chinese population[J].Acta Pharmacologica Sinica,2005,26(6):714-720. 被引量：17
  • 3Blode GC, Schiemann WP, Lodish HF. Role of transforming growth factor beta in human disease. N Engl J Med,2000,342:1650-1658.
  • 4Bachem MG, Meyer DM, Melchior R,et al. Activation of rat liver perisminusoidal lipocytes by transforming growth factors derived from myofibroblast-like cells. a potential mechanism of self-perpetuationin in liver fibrogenesis. J Clin Invest,1992,89:19-27.
  • 5Dixon MC, Yeaman SJ, Aguis L,et al. Transforming growth factor beta increases the activity of phospatidate phosphohydrolase-1 in rat hepatocytes.Biochem Biophys Res Commun,1997,230:365-369.
  • 6Gewaltig J, Mangasser-Stephan K, Gartung C, et al. Association of polymorphisms of the transforming growth factorβ1 gene with the rate of progression of HCV-induced liver fibrosis. Clin Chim Acta, 2002,316:83-94.
  • 7Bataller R, North KE, Brenner DA. Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. Hepatology,2003;37:493-503.
  • 8Luedecking EK, DeKosky ST, Mehdi H, et al. Analysis of genetic polymorphisms in the transforming growth factorβ1 gene and the risk of Alzheimer's disease. Hum Genet, 2000,106:565-569.
  • 9Dunning AM, Ellis PD, McBride S, et al.A transforming growth factor beta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Res, 2003,63:2610-2615.
  • 10de Souza AP, Trevilatto PC, Scarel-Caminaga RM, et al. Analysis of the TGF beta1 promoter polymorphism (C-509T) in patients with chronic perodontitis. J Clin Periodontol, 2003,30:519-523.

共引文献27

同被引文献55

引证文献6

二级引证文献23

现代免疫学
2009年 第2期

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