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单核苷酸多态性与自身免疫性甲状腺疾病研究进展

滕晓蕾, 张晓梅

滕晓蕾, 张晓梅. 单核苷酸多态性与自身免疫性甲状腺疾病研究进展[J]. 蚌埠医科大学学报, 2013, 37(11): 1519-1522.
引用本文: 滕晓蕾, 张晓梅. 单核苷酸多态性与自身免疫性甲状腺疾病研究进展[J]. 蚌埠医科大学学报, 2013, 37(11): 1519-1522.

单核苷酸多态性与自身免疫性甲状腺疾病研究进展

详细信息
    作者简介:

    滕晓蕾(1986- ),女,住院医师.

  • 摘要: 1自身免疫性甲状腺疾病(autoimmune thyroid diseases,AITDs)与单核苷酸多态性(single nucleotide polymorphisms,SNPs)概况1.1 AITDs AITDs是一种器官特异性自身免疫性疾病(autoimmune diseases,AIDs),包括Graves病(Gravesdisease,GD)和桥本甲状腺炎(Hashimotosthyroiditis,HT)。GD以高甲状腺素血症、弥漫性甲状腺肿、促甲状腺激素受体抗体(TRAb)阳性、Graves眼病和胫前黏液性水肿为特征;而HT以甲状腺细胞凋亡导致甲状腺功能减退为特征;但它们有共同特征,都伴有T细胞的浸润和甲状腺自身抗体的产生,并且像其他AIDs类似有家族聚集现象。
  • [1]

    [2] Burek CL,Hoffman WH,Rose NR. The presence of thyroid autoantibodies in children and adolescents with autoimmunethyroid disease and intheir siblings and parents[J]. Clin Immunol Immunopathol,1982,25(3):395-404.

    [1]

    Vyse TJ,Todd JA. Genetic analysis of autoimmune disease[J].Cell,1996,85(3):311-318.

    [2]

    [3] Wang DG,Fan JB,Siao CJ,et al. Large-scale identification, mapping and genotyping of single nucleotide polymorphisms in the human genome[J]. Science,1998,280(5366):1077-1082.

    [3] [4] 李萍,李永哲. 单核苷酸多态性及其分型技术在自身免疫性疾病研究中的应用进展[J]. 中华检验医学杂志,2010,33(12):1116-1121.
    [4]

    [5] Horton R,Wilming L,Rand V,et al. Gene map of the extended human MHC[J]. Nat Rev Genet,2004,5(12):889-899.

    [5]

    [6] Simmonds MJ,Howson JM,Heward JM,et al. Regression mapping of association between the human leukocyteantigen region and Graves disease[J]. Am J Hum Genet,2005,76(1):157-163.

    [6]

    [7] Simmonds MJ,Howson JM,Heward JM,et al. A novel andmajor association of HLA-C in Graves'disease thateclipses the classical HLA-DRB1 effect[J]. Hum Mol Genet,2007,16(18):2149-2153.

    [7]

    [8] Bech K,Lumholtz B,Nerup J,et al. HLA antigens in Graves' disease[J]. Acta Endocrinol(Copenh),1977,86(3):510-516.

    [8]

    [9] Heward JM,Allahabadia A,Daykin J,et al. Linkage disequilibrium between the human leukocyte antigen classⅡ region of the major histocompatibility complex and Graves' disease:replication using a population case control and family-based study[J]. J Clin Endocrinol Metab,1998,83(10):3394-3397.

    [9]

    [10] Simmonds MJ,Howson JM,Heward JM,et al. A novel andmajor association ofHLA-C in Graves' disease thateclipses the classical HLA-DRB1 effect[J]. Hum Mol Genet,2007,16(18):2149-2153.

    [10]

    [11] Chu X,Pan CM,Zhao SX,et al. A genome-wide association study identifies two new risk loci for Graves' disease[J]. Nat Genet,2011,43(9):897-901.

    [11]

    [12] Tivol EA,Borriello F,Schweitzer AN,et al. Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction,revealing a critical negative regulatory role of CTLA-4[J]. Immunity,1995,3(5):541-547.

    [12]

    [13] Donner H,Rau H,Walfish PG,et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus[J]. J Clin Endocrinol Metab,1997,82(1):143-146.

    [13]

    [14] Ueda H,Howson JM,Esposito L,et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease[J]. Nature,2003,423(6939):506-511.

    [14]

    [15] Kavvoura FK,Akamizu T,Awata T,et al. Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease:a meta-analysis[J]. J Clin Endocrinol Metab,2007,92(8):3162-3170.

    [15]

    [16] Bicek A,Zaletel K,Gaberscek S,et al. 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen4 gene associated with autoimmune thyroid disease[J]. Hum Immunol,2009,70(10):820-824.

    [16]

    [17] Gu LQ,Zhu W,Zhao SX,et al. Clinical associations of the genetic variants of CTLA-4,Tg,TSHR,PTPN22,PTPN12 and FCRL3 in patients with Graves' disease[J]. Clin Endocrinol(Oxf),2010,72(2):248-255.

    [17]

    [18] Zhao SX,Pan CM,Cao HM,et al. Association of the CTLA4 gene with Graves' disease in the Chinese Han population[J]. PLoS One,2010,5(3):e9821.

    [18]

    [19] Brand O,Gough S,Heward J. et al. HLA,CTLA-4 and PTPN22:the shared genetic master-key to autoimmunity[J]. Expert Rev Mol Med,2005,7(23):1-15.

    [19]

    [20] Smyth D,Cooper JD,Collins JE,et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes,and evidence for its role as a general autoimmunity locus[J]. Diabetes,2004,53(11):3020-3023.

    [20]

    [21] Bottini N,Musumeci L,Alonso A,et al. A functional variant of lymphoid tyrosine phosphatase is associated with type Ⅰ diabetes[J]. Nat Genet,2004,36(4):337-338.

    [21]

    [22] Vang T,Congia M,Macis MD,et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant[J]. Nat Genet,2005,37(12):1317-1319.

    [22]

    [23] Rieck M,Arechiga A,Onengut-Gumuscu S,et al. Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes[J].J Immunol,2007,179(7):4704-4710.

    [23]

    [24] Ichimura M,Kaku H,Fukutani T,et al. Associations of protein tyrosine phosphatase nonreceptor 22 ( PTPN22 ) genepolymorphisms with susceptibility to Graves' disease in a Japanese population[J]. Thyroid,2008,18(6):625-630.

    [24]

    [25] Chabchoub G,Teixiera EP,Maalej A,et al. The R620W polymorphism of the protein tyrosine phosphatase 22 gene inautoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population[J]. Ann Hum Biol,2009,36 (3):342-349.

    [25]

    [26] Ban Y,Tozaki T,Taniyama M,et al. Association of the protein tyrosine phosphatase nonreceptor 22 haplotypes with autoimmune thyroid disease in the Japanese population[J]. Thyroid,2010,20(8):893-899.

    [26]

    [27] Bednarczuk T,Placha G,Jazdzewski K,et al. Interleukin-13 gene polymorphisms in patients with Graves' disease [J]. Clin Endocrinol(Oxf),2003,59(4):519-525.

    [27]

    [28] Hiromatsu Y,Mukai T,Kaku H,et al. IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease[J]. Diabet Med,2006,23(2):211-215.

    [28]

    [29] Gu XJ,Cui B,Zhao ZF,et al. Association of the interleukin(IL)-16 gene polymorphisms with Graves' disease[J]. Clin Immunol,2008,127(3):298-302.

    [29]

    [30] Khalilzadeh O,Anvari M,Esteghamati A,et al. Graves' ophthalmopathy and gene polymorphisms in interleukin-1,interleukin-1,interleukin-1 receptor and interleukin-1 receptor antagonist[J]. Clin Experiment Ophthalmol,2009,37(6):614-619.

    [30]

    [31] Gross B,Misrabi M,Sar S,et al. Composite structure o f the human thyrotropin receptor gene[J]. Biochem Biophys Res Commun,1991,177(2):679-687.

    [31]

    [32] Rapoport B,Chazenbalk GD,Jaume JC,et al. The thyrotropin (TSH) receptor:interaction with TSH and autoantibodies[J].Endocr Rev,1998,19(6):673-716

    [32]

    [33] Davies TF,Ando T,Lin RY,et al. Thyrotropin receptor associated diseases:from adenomata to Graves disease[J]. J Clin Invest,2005,115(8):1972-1983.

    [33]

    [34] Urizar E,Claeysen S,Deupi X,et al. An activation switch in the rhodopsin family of G protein-coupled receptors:the thyrotropin receptor[J]. J Biol Chem,2005,280(17):17135-17141.

    [34]

    [35] Sanders J,Bolton J,Sanders P,et al. Effects of TSH receptor mutations on binding and biological activity of monoclonal antibodies and TSH[J]. Thyroid,2006,16(12):1195-1206.

    [35]

    [36] Chen CR,Pichurin P,Nagayama Y,et al. The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim[J]. J Clin Invest,2003,111(12):1897-1904.

    [36]

    [37] Dechairo BM,Zabaneh D,Collins J,et al. Association of the TSHR gene with Graves' disease:the first disease specific locus[J]. Eur J Hum Genet,2005,13(11):1223-1230.

    [37]

    [38] Brand OJ,Barrett JC,Simmonds MJ,et al. Association of the thyroid stimulating hormone receptor gene(TSHR) with Graves' disease[J].Hum Mol Genet,2009,18(9):1704-1713.

    [38]

    [39] Piloski R,Brand OJ,Jurecka-Lubieniecka B,et al. Thyroid stimulating hormone receptor(TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts[J]. PLoS One,2010,5(11):e15512.

    [39]

    [40] Shao L,Jiang H. Study on the relationship between TSHR gene and thyroid diseases[J]. Cell Biochem Biophys,2011,61(2):377-382.

    [40]

    [41] Rivolta CM,Targovnik HM. Molecular advances in thyroglobulin disorders[J]. Clinica Chimica Acta,2006,374(1/2):8-24.

    [41]

    [42] Hsiao JY,Hsieh MC,Tien KJ,et al. Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese[J]. J Clin Endocrinol Metab,2007,92(8):3197-3201.

    [42]

    [43] Hsiao JY,Hsieh MC,Tsieh MC,et al. Exon 33 T/T genotype of the thyroglobulin gene is a susceptibility gene for Graves' disease in Taiwanese and exon 12 C/C genotype protects against it[J].Clin Exp Med,2008,8(1):17-21.

    [43]

    [44] Maierhaba M,Zhang JA,Yu ZY,et al. Association of the thyroglobulin gene polymorphism with autoimmune thyroid disease in Chinese population[J]. Endocrine,2008,33(3):294-299.

    [44]

    [45] Caputo M,Rivolta CM,Mories T,et al. Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis[J].Endocrine,2010,37(3):389-395.

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出版历程
  • 收稿日期:  2012-05-29
  • 刊出日期:  2013-11-14

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