Genetics of ankylosing spondylitis

作者: Matthew A Brown

DOI: 10.1097/BOR.0B013E3283364483

关键词:

摘要: Purpose of Review Over the past 3 years, several new genes and gene deserts have been identified that are associated with ankylosing spondylitis (AS). The purpose this review is to discuss major findings these studies, answers they provide questions raise about pathogenesis common condition. Recent Findings: Five genes/genetic regions now definitively AS [the histocompatibility complex (MHC), IL23R, ERAP1, 2p15 21q22]. Strong evidence support association disease has demonstrated for IL1R2, ANTXR2, TNFSF15, TNFR1 a region on chromosome 16q including TRADD. There an overrepresentation involved in Th17 lymphocyte differentiation/activation among related diseases inflammatory bowel psoriasis, pointing strongly pathway as playing causative role disease. Increasing information differential HLA-B27 subtypes suggests hierarchy strength those alleles AS, providing useful test validity different potential mechanisms AS. mechanism underlying deserts, 21q22, involvement noncoding RNA etiopathogenesis. Summary: increasing list being definitely provides platform hypothesis-driven research field, alternative route determining focusing alone.

参考文章(188)
Xinle Cui, Farshid N. Rouhani, Feras Hawari, Stewart J. Levine, An aminopeptidase, ARTS-1, is required for interleukin-6 receptor shedding. Journal of Biological Chemistry. ,vol. 278, pp. 28677- 28685 ,(2003) , 10.1074/JBC.M300456200
Ivan Ovcharenko, Gabriela G Loots, Marcelo A Nobrega, Ross C Hardison, Webb Miller, Lisa Stubbs, Evolution and functional classification of vertebrate gene deserts Genome Research. ,vol. 15, pp. 137- 145 ,(2005) , 10.1101/GR.3015505
Meredith L. Heltzer, Susan E. Coffin, Kelly Maurer, Asen Bagashev, Zhe Zhang, Jordan S. Orange, Kathleen E. Sullivan, Immune dysregulation in severe influenza Journal of Leukocyte Biology. ,vol. 85, pp. 1036- 1043 ,(2009) , 10.1189/JLB.1108710
Lili C Kudo, Liubov Parfenova, Guijie Ren, Nancy Vi, Maria Hui, Zhongcai Ma, Kimbley Lau, Michelle Gray, Fawzia Bardag-Gorce, Martina Wiedau-Pazos, Koon-Sea Hui, Stanislav L Karsten, None, Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in hPSA/TAUP301L double-transgenic mice Human Molecular Genetics. ,vol. 20, pp. 1820- 1833 ,(2011) , 10.1093/HMG/DDR065
T. Karaderi, D. Harvey, C. Farrar, L. H. Appleton, M. A. Stone, R. D. Sturrock, M. A. Brown, P. Wordsworth, J. J. Pointon, Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case–control study and meta-analysis of published series Rheumatology. ,vol. 48, pp. 386- 389 ,(2009) , 10.1093/RHEUMATOLOGY/KEN501
Chung Tei Chou, Andrew E Timms, James CC Wei, Wen C Tsai, B Paul Wordsworth, Matthew A Brown, Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese Annals of the Rheumatic Diseases. ,vol. 65, pp. 1106- 1109 ,(2006) , 10.1136/ARD.2005.046847
Anna L Dixon, Liming Liang, Miriam F Moffatt, Wei Chen, Simon Heath, Kenny C C Wong, Jenny Taylor, Edward Burnett, Ivo Gut, Martin Farrall, G Mark Lathrop, Gonçalo R Abecasis, William O C Cookson, A genome-wide association study of global gene expression Nature Genetics. ,vol. 39, pp. 1202- 1207 ,(2007) , 10.1038/NG2109
Noriko Tosa, Masaaki Murakami, Wen Yi Jia, Minesuke Yokoyama, Taro Masunaga, Chikako Iwabuchi, Manabu Inobe, Kazuya Iwabuchi, Tadaaki Miyazaki, Kazunori Onoe, Makoto Iwata, Toshimitsu Uede, Critical function of T cell death‐associated gene 8 in glucocorticoid‐induced thymocyte apoptosis International Immunology. ,vol. 15, pp. 741- 749 ,(2003) , 10.1093/INTIMM/DXG070
David M Evans, , Chris C A Spencer, Jennifer J Pointon, Zhan Su, David Harvey, Grazyna Kochan, Udo Oppermann, Alexander Dilthey, Matti Pirinen, Millicent A Stone, Louise Appleton, Loukas Moutsianas, Stephen Leslie, Tom Wordsworth, Tony J Kenna, Tugce Karaderi, Gethin P Thomas, Michael M Ward, Michael H Weisman, Claire Farrar, Linda A Bradbury, Patrick Danoy, Robert D Inman, Walter Maksymowych, Dafna Gladman, Proton Rahman, Ann Morgan, Helena Marzo-Ortega, Paul Bowness, Karl Gaffney, J S Hill Gaston, Malcolm Smith, Jacome Bruges-Armas, Ana-Rita Couto, Rosa Sorrentino, Fabiana Paladini, Manuel A Ferreira, Huji Xu, Yu Liu, Lei Jiang, Carlos Lopez-Larrea, Roberto Díaz-Peña, Antonio López-Vázquez, Tetyana Zayats, Gavin Band, Céline Bellenguez, Hannah Blackburn, Jenefer M Blackwell, Elvira Bramon, Suzannah J Bumpstead, Juan P Casas, Aiden Corvin, Nicholas Craddock, Panos Deloukas, Serge Dronov, Audrey Duncanson, Sarah Edkins, Colin Freeman, Matthew Gillman, Emma Gray, Rhian Gwilliam, Naomi Hammond, Sarah E Hunt, Janusz Jankowski, Alagurevathi Jayakumar, Cordelia Langford, Jennifer Liddle, Hugh S Markus, Christopher G Mathew, Owen T McCann, Mark I McCarthy, Colin N A Palmer, Leena Peltonen, Robert Plomin, Simon C Potter, Anna Rautanen, Radhi Ravindrarajah, Michelle Ricketts, Nilesh Samani, Stephen J Sawcer, Amy Strange, Richard C Trembath, Ananth C Viswanathan, Matthew Waller, Paul Weston, Pamela Whittaker, Sara Widaa, Nicholas W Wood, Gilean McVean, John D Reveille, B Paul Wordsworth, Matthew A Brown, Peter Donnelly, , , Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility Nature Genetics. ,vol. 43, pp. 761- 767 ,(2011) , 10.1038/NG.873
M v Rudwaleit, D Van Der Heijde, R Landewé, J Listing, N Akkoc, J Brandt, J Braun, CT Chou, E Collantes-Estevez, M Dougados, F Huang, J Gu, MA Khan, Y Kirazli, WP Maksymowych, Herman Mielants, Inge Juul Sørensen, S Ozgocmen, E Roussou, R Valle-Oñate, U Weber, JUAN Wei, J Sieper, None, The development of Assessment of SpondyloArthritis international Society classification criteria for axial spondyloarthritis (part II): validation and final selection Annals of the Rheumatic Diseases. ,vol. 68, pp. 777- 783 ,(2009) , 10.1136/ARD.2009.108233