为了正常的体验网站,请在浏览器设置里面开启Javascript功能!
首页 > 弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现状

弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现状

2012-10-14 8页 pdf 679KB 39阅读

用户头像

is_183706

暂无简介

举报
弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现状 弥漫性甲状腺肿伴甲状腺功能亢进症 致病易感基因识别鉴定研究的现状 宋怀东 [提要] 经过半个世纪对弥漫性甲状腺肿伴甲状腺功能亢进症(Graves’disease,GD,甲亢)候选基因 在小样本人群中的研究,提供了不少相互矛盾的结果。在这些研究中,仅仅证实主要组织相容性复合物 (MHC)是甲亢的一个致病易感位点,因为这个位点对甲亢发生影响较大。应用以低密度的微卫星标志进 行全基因组连锁分析,虽然发现了一些甲亢的致病易感区段,但并未能识别真正的甲亢致病易感基因。随 后由于大量单核苷酸多态性(SNP)的发现及其标签SN...
弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现状
弥漫性甲状腺肿伴甲状腺功能亢进症 致病易感基因识别鉴定研究的现状 宋怀东 [提要] 经过半个世纪对弥漫性甲状腺肿伴甲状腺功能亢进症(Graves’disease,GD,甲亢)候选基因 在小样本人群中的研究,提供了不少相互矛盾的结果。在这些研究中,仅仅证实主要组织相容性复合物 (MHC)是甲亢的一个致病易感位点,因为这个位点对甲亢发生影响较大。应用以低密度的微卫星标志进 行全基因组连锁分析,虽然发现了一些甲亢的致病易感区段,但并未能识别真正的甲亢致病易感基因。随 后由于大量单核苷酸多态性(SNP)的发现及其标签SNP(Tag SNP)技术的出现,人们对候选基因上的Tag SNP在大样本人群中的分析,发现了一些真正的甲亢致病易感基因,包括免疫相关的基因如MHC、CTLA4、 SCGB3A2/UGRP1和FCRL3以及一个甲状腺特异的基因TSHR(促甲状腺素受体基因)。同时,也发现了一 些还有争议但需要进一步证实的甲亢易感基因如PTPN22和甲状腺球蛋白基因等。在不久的将来,全基因 组关联分析和全基因组再测序技术,在甲亢易感基因识别鉴定中的应用,无疑将会促进大量甲亢易感基因 的发现,加深人们对甲亢发病机制的理解。 格雷夫斯病;多态现象,遗传;基因组学 Recent progress in identification of candidate genes of Graves' disease SONG Huai-dongMolecular Medical Center, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China [ Sunnnary ] Intensive but quite chaotic and decentralized candidate gene studies on susceptibility to Graves' disease ( GD ) carried out in small size population in the past half century have provided a quantity of inconsistent data, which, however, resulted in finding of a proven association of GD with the MHC class Ⅱ region that exerts a major effect on the genetics of GD. Using low-resolution microsatellite-based human genome-wide linkage analysis, several regions of linkage harboring putative susceptibility variants but no gene susceptibility to GD were identified. Further, high throughput genotyping of large population cohorts with help of high dense panels of single nucleotide polymorphisms (SNPs) and application of advanced tools for analysis of extended blocks of linkage disequilibrium within a candidate gene ( tagging SNP, etc. ) have found several genes susceptible to GD, including immune-related genes such as MHC, CTLA4, SCGB3A2/UGRP1, FCRL3, and thyroid specific genes ( such as TSHR, etc. ). Less consistent results have been obtained in cases of PTPN22 and thyroglobulin. In the nearest future, implementation of even more robust technology such as genome-whole associated analysis (GWAS) and whole-genome re-sequencing are expected to catch more genes susceptibilities to GD. Graves' disease; Polymorphism, genetic; Genomics 10. 3760/cma. j. issn. 1000-6699. 2011.12. 001 国家自然科学基金( 30971595,30971383,81100553) 作者单位:200025 上海交通大学医学院附属瑞金医院分子医学中 心,上海市内分泌代谢病研究所 ·962· think 附注 多基因遗传 ·963· think 附注 易感基因门 .964- @@[ 1 ] Dessi MP, Karandikar S. Autoimmune thyroid disease in childhood: a study of children and their families. Indian Pediatr, 1999, 36: 659-668. @@[ 2 ] Brix TH, Christensen K, Holm NV, et al. A population-based study of Graves' disease in Danish twins. Clin Endocrinol (Oxf), 1998,48: 397-400. @@[ 3 ] Brix TH, Kyvik KO, Christensen K, et al. Evidence for a major role of heredity in Graves' disease: a population-based study of two Danish twin cohorts. J Clin Endocrinol Metab, 2001,86:930-934. @@[4] Chu X, Pan CM, Zhao SX, et al. A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet, 2011,43 : 897-901. @@[5] Song HD, Liang J, Shi JY, et al. Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease. Hum Mol Genet, 2009,18:1156-1170. @@[6] Ueda H, Howson JM, Esposito L, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature, 2003,423:506-511. @@[7] Simmonds MJ, Howson JM, Heward JM, et al. Regression mapping of association between the human leukocyte antigen region and Graves' disease. Am J Hum Genet, 2005,76:157-163. @@[ 8 ] Dechairo BM, Zabaneh D, Collins J, et al. Association of the TSHR gene with Graves' disease: the first disease specific locus. Eur J Hum Genet, 2005,13 : 1223-1230. @@[ 9 ] Freedman ML, Monteiro AN, Gayther SA, et al. Principles for the post GWAS functional characterization of cancer risk loci. Nat Genet, 2011, 43:513-518. @@[ 10] Ban Y, Davies TF, Greenberg DA, et al. Arginine at position 74 of the HLA-DR betal chain is associated with Graves' disease. Genes Immun, 2004,5:203-208. @@[ 11 ] Simmonds M J, Howson JM, Heward JM, et al. A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA DRB1 effect. Hum Mol Genet, 2007,16:2149-2153. @@[12] Zhao SX, Pan CM, Cao HM, et al. Association of the CTLA4 gene with Graves' disease in the Chinese Han population. PLoS One, 2010, 5:e9821. @@[ 13] Kochi Y, Yamada R, Suzuki A, et al. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and severs] autoimmunities. Nat C, enet, 2005,37:478-485. @@[14] Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium ( TASC), Burton PR, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet, 2007,39 : 1329-1337. @@[ 15] Owen CJ, Kelly H, Eden JA, et al. Analysis of the Fc receptor-like-3 ( FCRL3 ) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association. J Clin Endoorinol Metab, 2007, 92:1106-1111. @@[ 16 ] Sakai K, Shirasawa S, Ishikawa N, et al. Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto' s thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. Hum Mol Genet, 2001, 10 : 1379-1386. @@[ 17] Jin Y, Teng W, Ben S, et al. Genome-wide scan of Graves' disease: evidence for linkage on chromosome 5q31 in Chinese Han pedigrees. J Clin Endocrinol Metab, 2003,88(4) :1798-1803. @@[ 18 ] Simmonds M J, Yesmin K, Newby PR, et al. Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves' disease. Thyroid, 2010,20:413-417. @@[ 19] Chistiakov DA, Voronova NV, Turakulov RI, et al. The -112G > A polymorphism of the secretoglobin 3A2 ( SCGB3A2 ) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves' disease in subsets of patients with elevated levels of immunoglobulin E. J Appl Genet, 2011,52:201-207. @@[20] Tomer Y, Ban Y, Concepcion E, et al. Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole- genome screening in a data set of 102 multiplex families. Am J Hum Genet, 2003,73:736-747. @@[ 21 ] Hiratani H, Bowden DW, Ikegami S, et al. Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. J Clin Endocrinol Metab, 2005,90:2898-2903. @@[ 22 ] Brand O J, Barrett JC, Simmonds M J, et al. Association of the thyroid stimulating hormone receptor gene (TSHR)with Graves' disease. Hum Mol Genet, 2009,18 : 1704-1713. @@[ 23 ] 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. Diabetes, 2004,53:3020-3023. @@[24] Velaga MR, Wilson V, Jennings CE, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase ( LYP ) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab, 2004,89 : 5862-5865. @@[ 25 ] Zhang J, Zahir N, Jiang Q, et al. The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nat Genet, 2011 ,43:902-907. @@[ 26 ] Ban Y, Tozaki T, Taniyama M, et al. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese. Thyroid, 2005,15:1115-1118. @@[27] Gu LQ, Zhu W, Zhao SX, et al. Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPNi2 and FCRL3 in patients with Graves' disease. Clin Endocrinol (Oxf), 2010, 72: 248-255. @@[ 28 ] Ban Y, Greenberg DA, Concepcion E, et al. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci USA, 200, 100:15119-15124. @@[ 29 ] Collins JE, Heward JM, Howson JM, et al. Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. J Clin Endocrinol Metab, 2004,89:6336-6339. 2011-09-26 弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现 状 作者: 宋怀东, SONG Huai-dong 作者单位: 上海市内分泌代谢病研究所, 上海交通大学医学院附属瑞金医院分子医学中心,200025 刊名: 中华内分泌代谢杂志 英文刊名: Chinese Journal of Endocrinology and Metabolism 年,卷(期): 2011,27(12) 参考文献(29条) 1.Collins JE;Heward JM;Howson JM Common allelic variants of exons 10,12,and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom[外文期刊] 2004(12) 2.Ban Y;Greenberg DA;Concepcion E Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease 3.Gu LQ;Zhu W;Zhao SX Clinical associations of the genetic variants of CTLA-4,Tg,TSHR,PTPN22,PTPNi2 and FCRL3 in patients with Graves' disease 2010 4.Ban Y;Tozaki T;Taniyama M The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese 2005 5.Zhang J;Zahir N;Jiang Q The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness 2011 6.Velaga MR;Wilson V;Jennings CE The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease[外文期刊] 2004(11) 7.Smyth D;Cooper JD;Collins JE 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[外文期刊] 2004(11) 8.Brand O J;Barrett JC;Simmonds M J Association of the thyroid stimulating hormone receptor gene (TSHR)with Graves' disease[外文期刊] 2009(9) 9.Hiratani H;Bowden DW;Ikegami S Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease 2005 10.Tomer Y;Ban Y;Concepcion E Common and unique susceptibility loci in Graves and Hashimoto diseases:results of whole-genome screening in a data set of 102 multiplex families 2003 11.Chistiakov DA;Voronova NV;Turakulov RI The-112G 》 A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves' disease in subsets of patients with elevated levels of immunoglobulin E 2011 12.Simmonds M J;Yesmin K;Newby PR Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves'disease 2010 13.Jin Y;Teng W;Ben S Genome-wide scan of Graves' disease:evidence for linkage on chromosome 5q31 in Chinese Han pedigrees[外文期刊] 2003(04) 14.Sakai K;Shirasawa S;Ishikawa N Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto' s thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese 2001 15.Owen CJ;Kelly H;Eden JA Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association 2007 16.Wellcome Trust Case Control Consortium;Australo-Anglo-American Spondylitis Consortium (TASC);Burton PR Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants 2007 17.Kochi Y;Yamada R;Suzuki A A functional variant in FCRL3,encoding Fc receptor-like 3,is associated with rheumatoid arthritis and severs]autoimmunities 2005 18.Zhao SX;Pan CM;Cao HM Association of the CTLA4 gene with Graves' disease in the Chinese Han population[外文期刊] 2010 19.Simmonds M J;Howson JM;Heward JM A novel and major association of HLA-C in Graves' disease that eclipses the classical HLADRB1 effect 2007 20.Ban Y;Davies TF;Greenberg DA Arginine at position 74 of the HLA-DR betal chain is associated with Graves' disease 2004 21.Freedman ML;Monteiro AN;Gayther SA Principles for the postGWAS functional characterization of cancer risk loci 2011 22.Dechairo BM;Zabaneh D;Collins J Association of the TSHR gene with Graves' disease:the first disease specific locus[外文期刊] 2005(11) 23.Simmonds MJ;Howson JM;Heward JM Regression mapping of association between the human leukocyte antigen region and Graves' disease 2005 24.Ueda H;Howson JM;Esposito L Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease[外文期刊] 2003(6939) 25.Song HD;Liang J;Shi JY Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease[外文期刊] 2009(6) 26.Chu X;Pan CM;Zhao SX A genome-wide association study identifies two new risk loci for Graves' disease[外文期刊] 2011 27.Brix TH;Kyvik KO;Christensen K Evidence for a major role of heredity in Graves' disease:a population-based study of two Danish twin cohorts[外文期刊] 2001 28.Brix TH;Christensen K;Holm NV A population-based study of Graves' disease in Danish twins 1998 29.Dessi MP;Karandikar S Autoimmune thyroid disease in childhood:a study of children and their families 1999 本文链接:http://d.g.wanfangdata.com.cn/Periodical_zhnfmdx201112001.aspx
/
本文档为【弥漫性甲状腺肿伴甲状腺功能亢进症致病易感基因识别鉴定研究的现状】,请使用软件OFFICE或WPS软件打开。作品中的文字与图均可以修改和编辑, 图片更改请在作品中右键图片并更换,文字修改请直接点击文字进行修改,也可以新增和删除文档中的内容。
[版权声明] 本站所有资料为用户分享产生,若发现您的权利被侵害,请联系客服邮件isharekefu@iask.cn,我们尽快处理。 本作品所展示的图片、画像、字体、音乐的版权可能需版权方额外授权,请谨慎使用。 网站提供的党政主题相关内容(国旗、国徽、党徽..)目的在于配合国家政策宣传,仅限个人学习分享使用,禁止用于任何广告和商用目的。

历史搜索

    清空历史搜索