Progress in the genetics of ankylosing spondylitis - PubMed (original) (raw)
Review
doi: 10.1093/bfgp/elr023. Epub 2011 Sep 30.
Affiliations
- PMID: 21965815
- DOI: 10.1093/bfgp/elr023
Review
Progress in the genetics of ankylosing spondylitis
Matthew A Brown. Brief Funct Genomics. 2011 Sep.
Abstract
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthropathy. In addition to being strongly associated with HLA-B27, a further 13 genes have been robustly associated with the disease. These genes highlight the involvement of the IL-23 pathway in disease pathogenesis, and indicate overlaps between the pathogenesis of AS, and of inflammatory bowel disease. Genetic associations in B27-positive and -negative disease are similar, with the main exception of association with ERAP1, which is restricted in association to B27-positive cases. This restriction, and the known function of ERAP1 in peptide trimming prior to HLA Class I presentation, indicates that HLA-B27 is likely to operate in AS by a mechanism involving aberrant peptide handling. These advances point to several potential novel therapeutic approaches in AS.
Similar articles
- Genetics and genomics of ankylosing spondylitis.
Thomas GP, Brown MA. Thomas GP, et al. Immunol Rev. 2010 Jan;233(1):162-80. doi: 10.1111/j.0105-2896.2009.00852.x. Immunol Rev. 2010. PMID: 20192999 Review. - Major histocompatibility genes and ankylosing spondylitis.
Reveille JD. Reveille JD. Best Pract Res Clin Rheumatol. 2006 Jun;20(3):601-9. doi: 10.1016/j.berh.2006.03.004. Best Pract Res Clin Rheumatol. 2006. PMID: 16777585 Review. - ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.
Alvarez-Navarro C, López de Castro JA. Alvarez-Navarro C, et al. Curr Opin Rheumatol. 2013 Jul;25(4):419-25. doi: 10.1097/BOR.0b013e328362042f. Curr Opin Rheumatol. 2013. PMID: 23656713 Review. - LMP2 polymorphism is associated with extraspinal disease in HLA-B27 negative Caucasian and Mexican Mestizo patients with ankylosing spondylitis.
Maksymowych WP, Tao S, Vaile J, Suarez-Almazor M, Ramos-Remus C, Russell AS. Maksymowych WP, et al. J Rheumatol. 2000 Jan;27(1):183-9. J Rheumatol. 2000. PMID: 10648037 - Genetics of ankylosing spondylitis.
Brown MA. Brown MA. Curr Opin Rheumatol. 2010 Mar;22(2):126-32. doi: 10.1097/BOR.0b013e3283364483. Curr Opin Rheumatol. 2010. PMID: 20084006 Review.
Cited by
- Detection of Human Leukocyte Antigen B27 by Flowcytometry in Patients With Suspected Ankylosing Spondylitis in a Tertiary Care Centre.
N P, Shanmugam SG, Devi SS, Chinambedu Dandapani MP, S R, D'Cruze L. N P, et al. Cureus. 2021 Feb 25;13(2):e13560. doi: 10.7759/cureus.13560. Cureus. 2021. PMID: 33791178 Free PMC article. - Allelic association with ankylosing spondylitis fails to correlate with human leukocyte antigen B27 homodimer formation.
Lim Kam Sian TCC, Indumathy S, Halim H, Greule A, Cryle MJ, Bowness P, Rossjohn J, Gras S, Purcell AW, Schittenhelm RB. Lim Kam Sian TCC, et al. J Biol Chem. 2019 Dec 27;294(52):20185-20195. doi: 10.1074/jbc.RA119.010257. Epub 2019 Nov 18. J Biol Chem. 2019. PMID: 31740583 Free PMC article. - Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population.
Wang M, Xin L, Cai G, Zhang X, Yang X, Li X, Xia Q, Wang L, Xu S, Xu J, Shuai Z, Ding C, Pan F. Wang M, et al. PLoS One. 2017 May 11;12(5):e0177080. doi: 10.1371/journal.pone.0177080. eCollection 2017. PLoS One. 2017. PMID: 28493913 Free PMC article. - Role of HLA-B27 in the pathogenesis of ankylosing spondylitis (Review).
Chen B, Li J, He C, Li D, Tong W, Zou Y, Xu W. Chen B, et al. Mol Med Rep. 2017 Apr;15(4):1943-1951. doi: 10.3892/mmr.2017.6248. Epub 2017 Feb 24. Mol Med Rep. 2017. PMID: 28259985 Free PMC article. Review. - The association of NLRP3 and TNFRSF1A polymorphisms with risk of ankylosing spondylitis and treatment efficacy of etanercept.
Zhao S, Chen H, Wu G, Zhao C. Zhao S, et al. J Clin Lab Anal. 2017 Nov;31(6):e22138. doi: 10.1002/jcla.22138. Epub 2017 Jan 23. J Clin Lab Anal. 2017. PMID: 28116820 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Research Materials
Miscellaneous