Background 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.
Objectives In this study, we would find susceptibility locus in ANTXR2 associated with ankylosing spondylitis.
Methods 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).
Results 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).
Conclusions our study found the rs11098964 also has relationship with AS. rs11098964 was protective against AS. ANTXR2 is related to susceptibility to AS
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Disclosure of Interest None declared
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