用户名: 密码: 验证码:
TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves鈥?disease and Graves鈥?ophthalmopathy
详细信息    查看全文
  • 作者:N. E. Bufalo ; R. B. dos Santos ; M. A. Marcello…
  • 关键词:Autoimmunity ; Graves鈥?disease ; Thyroid ; stimulating hormone receptor ; Polymorphisms
  • 刊名:Journal of Endocrinological Investigation
  • 出版年:2015
  • 出版时间:May 2015
  • 年:2015
  • 卷:38
  • 期:5
  • 页码:555-561
  • 全文大小:
  • 参考文献:1.Weetman AP (2000) Graves鈥?disease. N Engl J Med 343(17):1236鈥?248. doi:10.鈥?056/鈥婲EJM200010263431鈥?07 CrossRef PubMed r>2.Bartalena L, Fatourechi V (2014) Extrathyroidal manifestations of Graves鈥?disease: a 2014 update. J Endocrinol Invest 37(8):691鈥?00. doi:10.鈥?007/鈥媠40618-014-0097-2 CrossRef PubMed r>3.Piantanida E, Tanda ML, Lai A, Sassi L, Bartalena L (2013) Prevalence and natural history of Graves鈥?orbitopathy in the XXI century. J Endocrinol Invest 36(6):444鈥?49. doi:10.鈥?275/鈥?937 PubMed r>4.Yin X, Latif R, Bahn R, Davies TF (2012) Genetic profiling in Graves鈥?disease: further evidence for lack of a distinct genetic contribution to Graves鈥?ophthalmopathy. Thyroid 22(7):730鈥?36. doi:10.鈥?089/鈥媡hy.鈥?012.鈥?007 CrossRef PubMed Central PubMed r>5.Ban Y, Tomer Y (2003) The contribution of immune regulatory and thyroid specific genes to the etiology of Graves鈥?and Hashimoto鈥檚 diseases. Autoimmunity 36(6鈥?):367鈥?79CrossRef PubMed r>6.Kavvoura FK, Akamizu T, Awata T, Ban Y, Chistiakov DA, Frydecka I, Ghaderi A, Gough SC, Hiromatsu Y, Ploski R, Wang PW, Bednarczuk T, Chistiakova EI, Chojm M, Heward JM, Hiratani H, Juo SH, Karabon L, Katayama S, Kurihara S, Liu RT, Miyake I, Omrani GH, Pawlak E, Taniyama M, Tozaki T, Ioannidis JP (2007) Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J Clin Endocrinol Metab 92(8):3162鈥?170. doi:10.鈥?210/鈥媕c.鈥?007-0147 CrossRef PubMed r>7.Zhang J, Zahir N, Jiang Q, Miliotis H, Heyraud S, Meng X, Dong B, Xie G, Qiu F, Hao Z, McCulloch CA, Keystone EC, Peterson AC, Siminovitch KA (2011) The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nat Genet 43(9):902鈥?07. doi:10.鈥?038/鈥媙g.鈥?04 CrossRef PubMed r>8.Tomer Y, Concepcion E, Greenberg DA (2002) A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves鈥?disease. Thyroid 12(12):1129鈥?135. doi:10.鈥?089/鈥?050725023210852鈥?4 CrossRef PubMed r>9.Chistiakov DA, Chistiakova EI, Voronova NV, Turakulov RI, Savost鈥檃nov KV (2011) A variant of the Il2ra/Cd25 gene predisposing to graves鈥?disease is associated with increased levels of soluble interleukin-2 receptor. Scand J Immunol 74(5):496鈥?01. doi:10.鈥?111/鈥媕.鈥?365-3083.鈥?011.鈥?2608.鈥媥 CrossRef PubMed r>10.Zhang J, Xiao WX, Zhu YF, Muhali FS, Xiao L, Jiang WJ, Shi XH, Zhou LH, Zhang JA (2013) Polymorphisms of interleukin-21 and interleukin-21-receptor genes confer risk for autoimmune thyroid diseases. BMC Endocr Disord 13:26. doi:10.鈥?186/鈥?472-6823-13-26 CrossRef PubMed Central PubMed r>11.Tomer Y, Greenberg DA, Concepcion E, Ban Y, Davies TF (2002) Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. J Clin Endocrinol Metab 87(1):404鈥?07CrossRef PubMed r>12.Davies TF, Yin X, Latif R (2010) The genetics of the thyroid stimulating hormone receptor: history and relevance. Thyroid 20(7):727鈥?36. doi:10.鈥?089/鈥媡hy.鈥?010.鈥?638 CrossRef PubMed Central PubMed r>13.Allahabadia A, Heward JM, Nithiyananthan R, Gibson SM, Reuser TT, Dodson PM, Franklyn JA, Gough SC (2001) MHC class II region, CTLA4 gene, and ophthalmopathy in patients with Graves鈥?disease. Lancet 358(9286):984鈥?85 [pii]:S0140673601061256CrossRef PubMed r>14.Davies TF, Ando T, Lin RY, Tomer Y, Latif R (2005) Thyrotropin receptor-associated diseases: from adenomata to Graves disease. J Clin Invest 115(8):1972鈥?983. doi:10.鈥?172/鈥婮CI26031 CrossRef PubMed Central PubMed r>15.Bahn RS (2010) Graves鈥?ophthalmopathy. N Engl J Med 362(8):726鈥?38. doi:10.鈥?056/鈥婲EJMra0905750 CrossRef PubMed Central PubMed r>16.Ploski R, Brand OJ, Jurecka-Lubieniecka B, Franaszczyk M, Kula D, Krajewski P, Karamat MA, Simmonds MJ, Franklyn JA, Gough SC, Jarzab B, Bednarczuk T (2010) Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves鈥?disease in three European Caucasian cohorts. PLoS One 5(11):e15512. doi:10.鈥?371/鈥媕ournal.鈥媝one.鈥?015512 CrossRef PubMed Central PubMed r>17.Allahabadia A, Heward JM, Mijovic C, Carr-Smith J, Daykin J, Cockram C, Barnett AH, Sheppard MC, Franklyn JA, Gough SC (1998) Lack of association between polymorphism of the thyrotropin receptor gene and Graves鈥?disease in United Kingdom and Hong Kong Chinese patients: case control and family-based studies. Thyroid 8(9):777鈥?80CrossRef PubMed r>18.Ban Y, Greenberg DA, Concepcion ES, Tomer Y (2002) A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves鈥?disease. Thyroid 12(12):1079鈥?083. doi:10.鈥?089/鈥?050725023210851鈥?1 CrossRef PubMed r>19.Chistiakov DA, Savost鈥檃nov KV, Turakulov RI, Petunina N, Balabolkin MI, Nosikov VV (2002) Further studies of genetic susceptibility to Graves鈥?disease in a Russian population. Med Sci Monit 8(3):CR180鈥揅R184 [pii]:2484PubMed r>20.Chistyakov DA, Savost鈥檃nov KV, Turakulov RI, Petunina NA, Trukhina LV, Kudinova AV, Balabolkin MI, Nosikov VV (2000) Complex association analysis of graves disease using a set of polymorphic markers. Mol Genet Metab 70(3):214鈥?18. doi:10.鈥?006/鈥媘gme.鈥?000.鈥?007 CrossRef PubMed r>21.Gabriel EM, Bergert ER, Grant CS, van Heerden JA, Thompson GB, Morris JC (1999) Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. J Clin Endocrinol Metab 84(9):3328鈥?335. doi:10.鈥?210/鈥媕cem.鈥?4.鈥?.鈥?966 PubMed r>22.Ho SC, Goh SS, Khoo DH (2003) Association of Graves鈥?disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid 13(6):523鈥?28. doi:10.鈥?089/鈥?050725033222387鈥?3 CrossRef PubMed r>23.Kaczur V, Takacs M, Szalai C, Falus A, Nagy Z, Berencsi G, Balazs C (2000) Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves鈥?disease. Eur J Immunogenet 27(1):17鈥?3 [pii]:eji187CrossRef PubMed r>24.Muhlberg T, Herrmann K, Joba W, Kirchberger M, Heberling HJ, Heufelder AE (2000) Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. J Clin Endocrinol Metab 85(8):2640鈥?643PubMed r>25.Simanainen J, Kinch A, Westermark K, Winsa B, Bengtsson M, Schuppert F, Westermark B, Heldin NE (1999) Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants. Thyroid 9(1):7鈥?1CrossRef PubMed r>26.Khalilzadeh O, Noshad S, Rashidi A, Amirzargar A (2011) Graves鈥?ophthalmopathy: a review of immunogenetics. Curr Genomics 12(8):564鈥?75. doi:10.鈥?174/鈥?389202117981208鈥?4 CrossRef PubMed Central PubMed r>27.Silva CRS, Albuquerque PSB, Ervedosa FR, Mota JWS, Figueira A, Sebbenn AM (2011) Understanding the genetic diversity, spatial genetic structure and mating system at the hierarchical levels of fruits and individuals of a continuous Theobroma cacao population from the Brazilian Amazon. Heredity 106(6):973鈥?85. doi:10.鈥?038/鈥婬dy.鈥?010.鈥?45 CrossRef PubMed Central PubMed r>28.Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedus L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves鈥?disease. Hum Mol Genet 18(9):1704鈥?713. doi:10.鈥?093/鈥媓mg/鈥媎dp087 CrossRef PubMed r>29.Brand OJ, Gough SC (2011) Immunogenetic mechanisms leading to thyroid autoimmunity: recent advances in identifying susceptibility genes and regions. Curr Genomics 12(8):526鈥?41. doi:10.鈥?174/鈥?389202117981207鈥?0 CrossRef PubMed Central PubMed r>30.Colobran R, Armengol Mdel P, Faner R, Gartner M, Tykocinski LO, Lucas A, Ruiz M, Juan M, Kyewski B, Pujol-Borrell R (2011) Association of an SNP with intrathymic transcription of TSHR and Graves鈥?disease: a role for defective thymic tolerance. Hum Mol Genet 20(17):3415鈥?423. doi:10.鈥?093/鈥媓mg/鈥媎dr247 CrossRef PubMed r>31.Dechairo BM, Zabaneh D, Collins J, Brand O, Dawson GJ, Green AP, Mackay I, Franklyn JA, Connell JM, Wass JA, Wiersinga WM, Hegedus L, Brix T, Robinson BG, Hunt PJ, Weetman AP, Carey AH, Gough SC (2005) Association of the TSHR gene with Graves鈥?disease: the first disease specific locus. Eur J Hum Genet 13(11):1223鈥?230. doi:10.鈥?038/鈥媠j.鈥媏jhg.鈥?201485 CrossRef PubMed r>32.Liu L, Wu HQ, Wang Q, Zhu YF, Zhang W, Guan LJ, Zhang JA (2012) Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population. Endocr J 59(8):717鈥?23 [pii]:DN/JST.JSTAGE/endocrj/EJ12-0024CrossRef PubMed r>33.Graves PN, Tomer Y, Davies TF (1992) Cloning and sequencing of a 1.3聽KB variant of human thyrotropin receptor mRNA lacking the transmembrane domain. Biochem Biophys Res Commun 187(2):1135鈥?143 [pii]:0006-291X(92)91315-HCrossRef PubMed r>34.Takeshita A, Nagayama Y, Fujiyama K, Yokoyama N, Namba H, Yamashita S, Izumi M, Nagataki S (1992) Molecular cloning and sequencing of an alternatively spliced form of the human thyrotropin receptor transcript. Biochem Biophys Res Commun 188(3):1214鈥?219 10.鈥?016/鈥?006-291X(92)91360-3 CrossRef PubMed r>35.Bahn RS, Burch HB, Cooper DS, Garber JR, Greenlee MC, Klein I, Laurberg P, McDougall IR, Montori VM, Rivkees SA, Ross DS, Sosa JA, Stan MN (2011) Hyperthyroidism and other causes of thyrotoxicosis: management guidelines of the American Thyroid Association and American Association of Clinical Endocrinologists. Endocr Pract 17(3):456鈥?20. Q707415233782R31 [pii]CrossRef PubMed r>36.Maia AL, Scheffel RS, Meyer EL, Mazeto GM, Carvalho GA, Graf H, Vaisman M, Maciel LM, Ramos HE, Tincani AJ, Andrada NC, Ward LS (2013) The Brazilian consensus for the diagnosis and treatment of hyperthyroidism: recommendations by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. Arq Bras Endocrinol Metabol 57(3):205鈥?32 [pii]:S0004-27302013000300006CrossRef PubMed r>37.Mourits MP, Prummel MF, Wiersinga WM, Koornneef L (1997) Clinical activity score as a guide in the management of patients with Graves鈥?ophthalmopathy. Clin Endocrinol (Oxf) 47(1):9鈥?4CrossRef r>38.Werner SC (1977) Modification of the classification of the eye changes of Graves鈥?disease: recommendations of the Ad Hoc Committee of the American Thyroid Association. J Clin Endocrinol Metab 44(1):203鈥?04CrossRef PubMed r>39.Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263鈥?65. doi:10.鈥?093/鈥媌ioinformatics/鈥媌th457 CrossRef PubMed r>40.Faul F, Erdfelder E, Lang AG, Buchner A (2007) G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39(2):175鈥?91CrossRef PubMed r>41.Bahn RS, Dutton CM, Natt N, Joba W, Spitzweg C, Heufelder AE (1998) Thyrotropin receptor expression in Graves鈥?orbital adipose/connective tissues: potential autoantigen in Graves鈥?ophthalmopathy. J Clin Endocrinol Metab 83(3):998鈥?002PubMed r>42.Ponto KA, Kanitz M, Olivo PD, Pitz S, Pfeiffer N, Kahaly GJ (2011) Clinical relevance of thyroid-stimulating immunoglobulins in graves鈥?ophthalmopathy. Ophthalmology 118(11):2279鈥?285. doi:10.鈥?016/鈥媕.鈥媜phtha.鈥?011.鈥?3.鈥?30 CrossRef PubMed r>43.Brix TH, Kyvik KO, Christensen K, Hegedus L (2001) Evidence for a major role of heredity in Graves鈥?disease: a population-based study of two Danish twin cohorts. J Clin Endocrinol Metab 86(2):930鈥?34PubMed r>44.Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatun J, Williams BA, Zaleski C, Rozowsky J, Roder M, Kokocinski F, Abdelhamid RF, Alioto T, Antoshechkin I, Baer MT, Bar NS, Batut P, Bell K, Bell I, Chakrabortty S, Chen X, Chrast J, Curado J, Derrien T, Drenkow J, Dumais E, Dumais J, Duttagupta R, Falconnet E, Fastuca M, Fejes-Toth K, Ferreira P, Foissac S, Fullwood MJ, Gao H, Gonzalez D, Gordon A, Gunawardena H, Howald C, Jha S, Johnson R, Kapranov P, King B, Kingswood C, Luo OJ, Park E, Persaud K, Preall JB, Ribeca P, Risk B, Robyr D, Sammeth M, Schaffer L, See LH, Shahab A, Skancke J, Suzuki AM, Takahashi H, Tilgner H, Trout D, Walters N, Wang H, Wrobel J, Yu Y, Ruan X, Hayashizaki Y, Harrow J, Gerstein M, Hubbard T, Reymond A, Antonarakis SE, Hannon G, Giddings MC, Ruan Y, Wold B, Carninci P, Guigo R, Gingeras TR (2012) Landscape of transcription in human cells. Nature 489(7414):101鈥?08. doi:10.鈥?038/鈥媙ature11233 CrossRef PubMed Central PubMed r>45.Pei B, Sisu C, Frankish A, Howald C, Habegger L, Mu XJ, Harte R, Balasubramanian S, Tanzer A, Diekhans M, Reymond A, Hubbard TJ, Harrow J, Gerstein MB (2012) The GENCODE pseudogene resource. Genome Biol 13(9):R51. doi:10.鈥?186/鈥媑b-2012-13-9-r51 CrossRef PubMed Central PubMed r>46.Wiersinga WM (2011) Autoimmunity in Graves鈥?ophthalmopathy: the result of an unfortunate marriage between TSH receptors and IGF-1 receptors? J Clin Endocrinol Metab 96(8):2386鈥?394. doi:10.鈥?210/鈥媕c.鈥?011-0307 CrossRef PubMed r>47.Liu L, Wu HQ, Wang Q, Zhu YF, Zhang W, Guan LJ, Zhang JA (2012) Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population. Endocr J 59(8):717鈥?23CrossRef PubMed r>48.Ploski R, Szymanski K, Bednarczuk T (2011) The Genetic Basis of Graves鈥?Disease. Curr Genomics 12(8):542鈥?63CrossRef PubMed Central PubMed r>49.Jurecka-Lubieniecka B, Ploski R, Kula D, Szymanski K, Bednarczuk T, Ambroziak U, Hasse-Lazar K, Hyla-Klekot L, Tukiendorf A, Kolosza Z, Jarzab B (2014) Association between polymorphisms in the TSHR gene and Graves鈥?orbitopathy. PLoS One 9(7):e102653. doi:10.鈥?371/鈥媕ournal.鈥媝one.鈥?102653 CrossRef PubMed Central PubMed r>50.Hiratani H, Bowden DW, Ikegami S, Shirasawa S, Shimizu A, Iwatani Y, Akamizu T (2005) Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves鈥?disease. J Clin Endocrinol Metab 90(5):2898鈥?903. doi:10.鈥?210/鈥媕c.鈥?004-2148 CrossRef PubMed r>51.Khalilzadeh O, Anvari M, Esteghamati A, Momen-Heravi F, Rashidi A, Amiri HM, Tahvildari M, Mahmoudi M, Amirzargar A (2010) Genetic susceptibility to Graves鈥?ophthalmopathy: the role of polymorphisms in anti-inflammatory cytokine genes. Ophthalmic Genet 31(4):215鈥?20. doi:10.鈥?109/鈥?3816810.鈥?010.鈥?15648 CrossRef PubMed r>52.Lacka K, Paradowska A, Gasinska T, Soszynska J, Wichary H, Kramer L, Lacki JK (2009) Interleukin-1beta gene (IL-1beta) polymorphisms (SNP -511 and SNP +3953) in thyroid-associated ophthalmopathy (TAO) among the Polish population. Curr Eye Res 34(3):215鈥?20. doi:10.鈥?080/鈥?271368080269939鈥? CrossRef PubMed r>
  • 作者单位:N. E. Bufalo (1) r> R. B. dos Santos (2) r> M. A. Marcello (1) r> R. P. Piai (1) r> R. Secolin (3) r> J. H. Romaldini (2) (4) r> L. S. Ward (1) r>r>1. Laboratory of Cancer Molecular Genetics, School of Medical Sciences (FCM), University of Campinas (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria Zeferino Vaz, Campinas, SP, 13083-887, Brazil r> 2. Division of Endocrinology, Pontifical Catholic University of Campinas (PUCCAMP), Av. John Boyd Dunlop, s/no Jardim Ipaussurama, Campinas, SP, 13060-904, Brazil r> 3. Department of Medical Genetics, University of Campinas (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria Zeferino Vaz, Campinas, SP, 13083-887, Brazil r> 4. HSPE-IAMSPE, Av. Ibirapuera, 981, Vila Clementino, S茫o Paulo, 04029-000, Brazil r>
  • 刊物类别:Medicine/Public Health, general; Endocrinology; Metabolic Diseases;
  • 刊物主题:Medicine/Public Health, general; Endocrinology; Metabolic Diseases;
  • 出版者:Springer International Publishing
  • ISSN:1720-8386
文摘
Purpose Intronic thyroid-stimulating hormone receptor polymorphisms have been associated with the risk for both Graves鈥?disease and Graves鈥?ophthalmopathy, but results have been inconsistent among different populations. We aimed to investigate the influence of thyroid-stimulating hormone receptor intronic polymorphisms in a large well-characterized population of GD patients.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700