AB0113 The relationship of polymorphisms of ANTXR2 gene with ankylosing spondylitis in chinese han
Authors: Q Lv, X Wu, J Gu
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> ANTXR2 as the protein binding to collagen IV and laminin, may be involved in extracellular matrix adhesion. GWAS study in European had found its SNPs has relationship with ankylosing spondylitis, but these variations were not related to Chinese people. <h3>Objectives</h3> In this study, we would find susceptibility locus in ANTXR2 associated with ankylosing spondylitis. <h3>Methods</h3> After the haplotype analysis from the 1000 Genomes Project data, we chose tags SNPs validated on 254 cases and 170 matched controls through Mass Spectrometry method. The patients were diagnosed accoding to the Modified New York Criteria for Ankylosing Spondylitis (1984). <h3>Results</h3> In 197 Chinese people from the 1000genome database, there are 16 Haplotype blocks of ANTXR2 gene. 5 SNPs were verified (rs78740643, rs11098964, rs28688624, rs4389526 and rs7689197) by mass spectrometry. Case/control association analysis showed rs11098964 having relationship with AS (P=0.01721, OR (95% CI) = 0.4793 (0.2554–0.8621)). Dominant model of rs11098964 were significant difference from controls (P=0.0109). <h3>Conclusions</h3> our study found the rs11098964 also has relationship with AS. rs11098964 was protective against AS. ANTXR2 is related to susceptibility to AS <h3>References</h3> Ng SC, Liao Z, Yu DT, Chan ES, Zhao L, Gu J. Epidemiology of spondyloarthritis in the People9s Republic of China: review of the literature and commentary. Semin Arthritis Rheum 2007;37:39–47. Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 2010;42:123–7. Momenzadeh P, Mahmoudi M, Beigy M, Garshasbi M, Vodjdanian M, Farazmand A, et al. Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis. Rheumatol Int 2016;36:429–35. Guo C, Xia Y, Yang Q, Qiu R, Zhao H, Liu Q. Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han. Scand J Rheumatol 2012;41:29–32. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984;27:361–8. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559–75. Wu Z, Mou Y, Lin Z, Huang J, Wei Q, Gu J. HLA-B27 polymorphism in Han Chinese patients with ankylosing spondylitis: a distinctive disease association for B*2715 in a multiplex family. J Rheumatol 2009;36:2849–50. Goedecke V, Crane AM, Jaakkola E, Kaluza W, Laiho K, Weeks DE, et al. Interleukin 10 polymorphisms in ankylosing spondylitis. Genes Immun 2003;4:74–6. van der Paardt M, Crusius JB, Garcia-Gonzalez MA, Baudoin P, Kostense PJ, Alizadeh BZ, et al. Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in ankylosing spondylitis. Rheumatology (Oxford) 2002;41:1419–23. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007;39:1329–37. <h3>Disclosure of Interest</h3> None declared