Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han

Objective: Ankylosing spondylitis (AS) is an inflammatory disease of unknown origin. Both genetic and environmental factors are involved. A recent genome-wide association study (GWAS) found anthrax toxin receptor 2 (ANTXR2) to be associated with AS in Caucasians. We aimed to investigate whether the ANTXR2 polymorphism is also associated with AS in a Chinese Shandong Han population. Methods: From 2008 to 2009, we recruited 309 patients with AS and 384 age-and sex-matched controls of Han nationality. We selected six single nucleotide polymorphisms (SNPs) of ANTXR2 (rs4333130, rs6534708, rs6818557, rs12646132, rs12509658, and rs13140055) and genotyped them by polymerase chain reaction restriction fragment-length polymorphism (PCR-RFLP) and Taqman methods. We analysed linkage disequilibrium and constructed haplotypes. Results: Cases and controls did not differ in the frequency of ANTXR2 alleles, genotypes, or haplotypes. Thus, the six SNPs of ANTXR2 are not associated with AS in our Chinese Shandong Han population. Conclusions: ANTXR2 might not be a susceptibility gene of AS in Chinese Han.