摘要: Der Einfluss genetischer Faktoren auf die Erkrankungssuszeptibilitat und den klinischen Verlauf der rheumatoiden Arthritis (RA) ist seit Langem bekannt, entzog sich jedoch bisher einer umfassenden, genomweiten Analyse. Neue Typisierungstechnologien sowie Verfugbarkeit groser internationaler Konsortien mit grosen Patientenkohorten waren ausschlaggebend fur raschen Erkenntniszuwachs uber genetischen Grundlagen RA, welcher in letzten Jahren zu zunehmenden Verknupfung immungenetischer Assoziationen immunologischen Konzepten Pathogenese Erkrankung gefuhrt hat. Neue, gesicherte Erkenntnisse Erkrankungsassoziation von Genen, Signaltransduktion immunkompetenter Zellen eingebundenen sind, rucken spezifische Mechanismen beteiligten Zellpopulationen Fokus des Interesses. Genetische ihre Auswirkungen aktuelle Pathogenesemodelle RA werden diskutiert.
springer.com
sci-hub.se 参考文章(60)
Veena Taneja, Marius J. Giphart, Willem Verduijn, Albert Naipal, Anand N. Malaviya, Narinder K. Mehra, Polymorphism of HLA-DRB, -DQA1, and -DQB1 in Rheumatoid Arthritis in Asian Indians Human Immunology. ,vol. 46, pp. 35- 41 ,(1996) , 10.1016/0198-8859(95)00165-4
Kenichi Shimane, Yuta Kochi, Tetsuya Horita, Katsunori Ikari, Hirofumi Amano, Michito Hirakata, Akiko Okamoto, Ryo Yamada, Keiko Myouzen, Akari Suzuki, Michiaki Kubo, Tatsuya Atsumi, Takao Koike, Yoshinari Takasaki, Shigeki Momohara, Hisashi Yamanaka, Yusuke Nakamura, Kazuhiko Yamamoto, The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population. Arthritis & Rheumatism. ,vol. 62, pp. 574- 579 ,(2010) , 10.1002/ART.27190
Hironori Ueda, Joanna MM Howson, Laura Esposito, Joanne Heward, Snook, Giselle Chamberlain, Daniel B Rainbow, Kara MD Hunter, Annabel N Smith, Gianfranco Di Genova, Mathias H Herr, Ingrid Dahlman, Felicity Payne, Deborah Smyth, Christopher Lowe, Rebecca CJ Twells, Sarah Howlett, Barry Healy, Sarah Nutland, Helen E Rance, Vin Everett, Luc J Smink, Alex C Lam, Heather J Cordell, Neil M Walker, Cristina Bordin, John Hulme, Costantino Motzo, Francesco Cucca, J Fred Hess, Michael L Metzker, Jane Rogers, Simon Gregory, Amit Allahabadia, Ratnasingam Nithiyananthan, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Polly Bingley, Kathleen M Gillespie, Dag E Undlien, Kjersti S Rønningen, Cristian Guja, Constantin Ionescu-Tîrgovişte, David A Savage, A Peter Maxwell, Dennis J Carson, Chris C Patterson, Jayne A Franklyn, David G Clayton, Laurence B Peterson, Linda S Wicker, John A Todd, Stephen CL Gough, None, Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease Nature. ,vol. 423, pp. 506- 511 ,(2003) , 10.1038/NATURE01621
Anne Hinks, Anne Barton, Sally John, Ian Bruce, Clive Hawkins, Christopher E. M. Griffiths, Rachelle Donn, Wendy Thomson, Alan Silman, Jane Worthington, Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthritis & Rheumatism. ,vol. 52, pp. 1694- 1699 ,(2005) , 10.1002/ART.21049
Ann B. Begovich, Victoria E.H. Carlton, Lee A. Honigberg, Steven J. Schrodi, Anand P. Chokkalingam, Heather C. Alexander, Kristin G. Ardlie, Qiqing Huang, Ashley M. Smith, Jill M. Spoerke, Marion T. Conn, Monica Chang, Sheng-Yung P. Chang, Randall K. Saiki, Joseph J. Catanese, Diane U. Leong, Veronica E. Garcia, Linda B. McAllister, Douglas A. Jeffery, Annette T. Lee, Franak Batliwalla, Elaine Remmers, Lindsey A. Criswell, Michael F. Seldin, Daniel L. Kastner, Christopher I. Amos, John J. Sninsky, Peter K. Gregersen, A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. American Journal of Human Genetics. ,vol. 75, pp. 330- 337 ,(2004) , 10.1086/422827
Anne Hinks, Steve Eyre, Xiayi Ke, Anne Barton, Paul Martin, Edward Flynn, Jon Packham, Jane Worthington, Wendy Thomson, Childhood Arthritis Prospective Study (CAPS, UKRAG Consortium, BSPAR Study Group, None, Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis Annals of the Rheumatic Diseases. ,vol. 69, pp. 1049- 1053 ,(2010) , 10.1136/ARD.2009.110650
Gail A. Bishop, The multifaceted roles of TRAFs in the regulation of B-cell function Nature Reviews Immunology. ,vol. 4, pp. 775- 786 ,(2004) , 10.1038/NRI1462
Mikako Mori, Ryo Yamada, Kyoko Kobayashi, Reimi Kawaida, Kazuhiko Yamamoto, Ethnic differences in allele frequency of autoimmune-disease-associated SNPs Journal of Human Genetics. ,vol. 50, pp. 264- 266 ,(2005) , 10.1007/S10038-005-0246-8
E M Jacobson, A K Huber, N Akeno, M Sivak, C W Li, E Concepcion, K Ho, Y Tomer, A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression Genes and Immunity. ,vol. 8, pp. 205- 214 ,(2007) , 10.1038/SJ.GENE.6364375
Ira Surolia, Stephan P. Pirnie, Vasant Chellappa, Kendra N. Taylor, Annaiah Cariappa, Jesse Moya, Haoyuan Liu, Daphne W. Bell, David R. Driscoll, Sven Diederichs, Khaleda Haider, Ilka Netravali, Sheila Le, Roberto Elia, Ethan Dow, Annette Lee, Jan Freudenberg, Philip L. De Jager, Yves Chretien, Ajit Varki, Marcy E. MacDonald, Tammy Gillis, Timothy W. Behrens, Donald Bloch, Deborah Collier, Joshua Korzenik, Daniel K. Podolsky, David Hafler, Mandakolathur Murali, Bruce Sands, John H. Stone, Peter K. Gregersen, Shiv Pillai, Functionally defective germline variants of sialic acid acetylesterase in autoimmunity Nature. ,vol. 466, pp. 243- 247 ,(2010) , 10.1038/NATURE09115