Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis.

作者: M. Cherciu , L. O. Popa , M. Bojinca , M. I. Dutescu , V. Bojinca

DOI: 10.1111/TAN.12158

关键词:

摘要: We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis 108 controls) general ankylosing spondylitis (AS) patients (n = 137) vs random controls 139). Both single nucleotide polymorphisms (SNPs) were associated with the risk [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P 0.001 for rs30187, OR 1.58, CI 1.07-2.34, 0.02 rs27044]. The CC haplotype was a protective factor (P 0.002), while TG 0.01) spondyloarthritis. SNP rs30187 also HLA-B27+ AS. For group AS, carriers minor alleles showed an increased disease (OR 1.92, 1.17-3.13 1.74, 1.08-2.80 rs27044). This is first study that shows association haplotypes

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