- About this Journal ·
- Abstracting and Indexing ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Recently Accepted Articles ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Clinical and Developmental Immunology
Volume 2013 (2013), Article ID 419357, 6 pages
Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?
Department of Rheumatology and Immunology, The Third Affiliated Hospital of Sun Yat-Sen University, 600 Tianhe Road, Guangzhou, Guangdong 510630, China
Received 27 October 2012; Revised 24 December 2012; Accepted 27 December 2012
Academic Editor: E. Shevach
Copyright © 2013 Jiayu Zhai et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- L. A. Rubin, C. I. Amos, J. A. Wade et al., “Investigating the genetic basis for ankylosing spondylitis: linkage studies with the major histocompatibility complex region,” Arthritis and Rheumatism, vol. 37, no. 8, pp. 1212–1220, 1994.
- Q. Y. Zeng, R. Chen, J. Darmawan et al., “Rheumatic diseases in China,” Arthritis Research and Therapy, vol. 10, no. 1, article R17, 2008.
- S. C. Ng, Z. Liao, D. T. T. Yu, E. S. Y. Chan, L. Zhao, and J. Gu, “Epidemiology of spondyloarthritis in the People's republic of China: review of the literature and commentary,” Seminars in Arthritis and Rheumatism, vol. 37, no. 1, pp. 39–47, 2007.
- J. Zochling and E. U. R. Smith, “Seronegative spondyloarthritis,” Best Practice and Research: Clinical Rheumatology, vol. 24, no. 6, pp. 747–756, 2010.
- J. D. Reveille, “Epidemiology of spondyloarthritis in North America,” American Journal of the Medical Sciences, vol. 341, no. 4, pp. 284–286, 2011.
- M. A. Brown, L. G. Kennedy, A. J. MacGregor et al., “Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment,” Arthritis and Rheumatism, vol. 40, no. 10, pp. 1823–1828, 1997.
- M. A. Brown, S. H. Laval, S. Brophy, and A. Calin, “Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis,” Annals of the Rheumatic Diseases, vol. 59, no. 11, pp. 883–886, 2000.
- Z. M. Lin, The Genetic Risk and Genome-Wide Linkage and Association Study, Sun Yat-Sen University, 2010.
- J. Braun and J. Sieper, “Ankylosing spondylitis,” The Lancet, vol. 369, no. 9570, pp. 1379–1390, 2007.
- J. Gu, J. Huang, C. Li et al., “Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families,” Journal of Medical Genetics, vol. 46, no. 10, pp. 657–662, 2009.
- M. A. Brown, K. D. Pile, L. G. Kennedy, et al., “A genome-wide screen for susceptibility loci in ankylosing spondylitis,” Arthritis and Rheumatism, vol. 41, no. 4, pp. 588–595, 1998.
- J. Huang and J. Gu, “Ankylosing spondylitis gene mapping defined by genome search Meta analysis,” Journal of Modern Clinical Medical Bioengineering, vol. 12, no. 6, pp. 454–459, 2006.
- Australo-Anglo-American Spondyloarthritis Consortium (TASC), J. D. Reveille, A. M. Sims, et al., “Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci,” Nature Genetics, vol. 42, no. 2, pp. 123–127, 2010.
- Z. Lin, J. X. Bei, M. Shen, et al., “A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis,” Nature Genetics, vol. 44, no. 1, pp. 73–77, 2011.
- T. Urano, K. Narusawa, M. Shiraki et al., “Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women,” European Spine Journal, vol. 20, no. 4, pp. 572–577, 2011.
- H. Glantschnig, R. A. Hampton, P. Lu et al., “Generation and selection of novel fully human monoclonal antibodies that neutralize Dickkopf-1 (DKK1) inhibitory function in vitro and increase bone mass in vivo,” Journal of Biological Chemistry, vol. 285, no. 51, pp. 40135–40147, 2010.
- J. Suzuki, M. Umeda, P. J. Sims, and S. Nagata, “Calcium-dependent phospholipid scrambling by TMEM16F,” Nature, vol. 468, no. 7325, pp. 834–838, 2010.
- H. C. Hartzell, K. Yu, Q. Xiao, L. T. Chien, and Z. Qu, “Anoctamin/TMEM16 family members are Ca2+-activated Cl− channels,” Journal of Physiology, vol. 587, no. 10, pp. 2127–2139, 2009.
- M. A. Brown, “Genetics of ankylosing spondylitis,” Current Opinion in Rheumatology, vol. 22, no. 2, pp. 126–132, 2010.
- D. M. Evans, C. C. A. Spencer, J. J. Pointon et al., “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, no. 8, pp. 761–767, 2011.
- Y. Liu, L. Jiang, Q. Cai et al., “Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients,” Tissue Antigens, vol. 75, no. 1, pp. 61–64, 2010.
- S. Gonzalez-Roces, M. V. Alvarez, S. Gonzalez, et al., “HLA-B27 polymorphism and worldwide susceptibility to ankylosing spondylitis,” Tissue Antigens, vol. 49, no. 2, pp. 116–163, 1997.
- X. Liu, L. H. Hu, Y. R. Li, F. H. Chen, Y. Ning, and Q. F. Yao, “The association of HLA-B*27 subtypes with ankylosing spondylitis in Wuhan population of China,” Rheumatology International, vol. 30, no. 5, pp. 587–590, 2010.
- T. Y. Hou, H. C. Chen, C. H. Chen, D. M. Chang, F. C. Liu, and J. H. Lai, “Usefulness of human leucocyte antigen-B27 subtypes in predicting ankylosing spondylitis: Taiwan experience,” Internal Medicine Journal, vol. 37, no. 11, pp. 749–752, 2007.
- Z. Wu, Y. Mou, Z. Lin, J. Huang, Q. Wei, and J. Gu, “HLA-B27 polymorphism in Han Chinese patients with ankylosing spondylitis: a distinctive disease association for B*2715 in a multiplex family,” Journal of Rheumatology, vol. 36, no. 12, pp. 2849–2850, 2009.
- Y. Mou, Z. Wu, J. Gu et al., “HLA-B27 polymorphism in patients with juvenile and adult-onset ankylosing spondylitis in Southern China,” Tissue Antigens, vol. 75, no. 1, pp. 56–60, 2010.
- P. R. Burton, D. G. Clayton, L. R. Cardon et al., “Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants,” Nature Genetics, vol. 39, no. 11, pp. 1329–1337, 2007.
- W. P. Maksymowych, R. D. Inman, D. D. Gladman, J. P. Reeve, A. Pope, and P. Rahman, “Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis,” Arthritis and Rheumatism, vol. 60, no. 5, pp. 1317–1323, 2009.
- S. I. Davidson, X. Wu, Y. Liu et al., “Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population,” Arthritis and Rheumatism, vol. 60, no. 11, pp. 3263–3268, 2009.
- C. Li, Z. Lin, Y. Xie et al., “ERAP1 is associated with ankylosing spondylitis in Han Chinese,” Journal of Rheumatology, vol. 38, no. 2, pp. 317–321, 2011.
- G. Kochan, T. Krojer, D. Harvey et al., “Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming,” Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 19, pp. 7745–7750, 2011.
- L. Saveanu, O. Carroll, V. Lindo et al., “Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum,” Nature Immunology, vol. 6, no. 7, pp. 689–697, 2005.
- N. Haroon, F. W. Tsui, B. Uchanska-Ziegler, et al., “Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis,” Annals of the Rheumatic Diseases, vol. 71, no. 4, pp. 589–595, 2012.
- X. Cui, F. N. Rouhani, F. Hawari, and S. J. Levine, “Shedding of the type II IL-1 decoy receptor requires a multifunctional aminopeptidase, aminopeptidase regulator of TNF receptor type 1 shedding,” Journal of Immunology, vol. 171, no. 12, pp. 6814–6819, 2003.
- Y. Goto, K. Ogawa, A. Hattori, and M. Tsujimoto, “Secretion of endoplasmic reticulum aminopeptidase 1 is involved in the activation of macrophages induced by lipopolysaccharide and interferon-γ,” Journal of Biological Chemistry, vol. 286, no. 24, pp. 21906–21914, 2011.
- M. Szczypiorska, A. Sánchez, N. Bartolomé, et al., “ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population,” Rheumatology, vol. 50, no. 11, pp. 1969–1975, 2011.
- X. Wang, J. Huang, Z. Lin et al., “Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients,” Rheumatology International, vol. 30, no. 7, pp. 955–959, 2010.
- C. Chen, X. Zhang, J. Li, and Y. Wang, “Associations of IL-23R polymorphisms with ankylosing spondylitis in East Asian population: a new case-control study and a meta-analysis,” International Journal of Immunogenetics, vol. 39, no. 2, pp. 126–130, 2012.
- B. S. McKenzie, R. A. Kastelein, and D. J. Cua, “Understanding the IL-23-IL-17 immune pathway,” Trends in Immunology, vol. 27, no. 1, pp. 17–23, 2006.
- X. Wang, Z. Lin, Q. Wei, Y. Jiang, and J. Gu, “Expression of IL-23 and IL-17 and effect of IL-23 on IL-17 production in ankylosing spondylitis,” Rheumatology International, vol. 29, no. 11, pp. 1343–1347, 2009.
- C. W. Lees and J. Satsangi, “Genetics of inflammatory bowel disease: implications for disease pathogenesis and natural history,” Expert Review of Gastroenterology and Hepatology, vol. 3, no. 5, pp. 513–534, 2009.
- R. P. Nair, K. C. Duffin, C. Helms et al., “Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways,” Nature Genetics, vol. 41, no. 2, pp. 199–204, 2009.
- S. I. Davidson, Y. Liu, P. A. Danoy et al., “Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese,” Annals of the Rheumatic Diseases, vol. 70, no. 2, pp. 289–292, 2011.
- R. H. Wong, J. C. Wei, C. H. Huang, et al., “Association of IL-12B genetic polymorphism with the susceptibility and disease severity of ankylosing spondylitis,” The Journal of Rheumatology, vol. 39, no. 1, pp. 135–140, 2012.
- Z. Zeng, Z. H. Duan, T. C. Zhang, et al., “Association of FCRL4 polymorphisms on disease susceptibility and severity of ankylosing spondylitis in Chinese Han population,” Clinical Rheumatology, vol. 31, no. 10, pp. 1449–1454, 2012.
- Z. H. Duan, F. M. Pan, Z. Zeng, et al., “The FCGR2B rs10917661 polymorphism may confer susceptibility to ankylosing spondylitis in Han Chinese: a case-control study,” Scandinavian Journal of Rheumatology, vol. 41, no. 3, pp. 219–222, 2012.
- J. C. C. Wei, H. S. Lee, W. C. Chen, L. J. Shiu, S. F. Yang, and R. H. Wong, “Genetic polymorphisms of the matrix metalloproteinase-3 (MMP-3) and tissue inhibitors of matrix metalloproteinases-1 (TIMP-1) modulate the development of ankylosing spondylitis,” Annals of the Rheumatic Diseases, vol. 68, no. 11, pp. 1781–1786, 2009.
- J. C. C. Wei, J. H. Yen, S. H. H. Juo et al., “Association of ORAI1 haplotypes with the risk of HLA-B27 positive ankylosing spondylitis,” PLoS ONE, vol. 6, no. 6, Article ID e20426, 2011.
- R. Joshi, J. D. Reveille, and M. A. Brown, “Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?” Arthritis Care & Research, vol. 64, no. 5, pp. 780–784, 2012.