erap1 genetic variations associated with hla-b27 interaction and disease severity of syndesmophytes formation in taiwanese ankylosing spondylitiserap1 hla-b27相关差异基因相互作用和疾病的严重程度syndesmophytes形成台湾强直性脊柱炎.pdfVIP

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erap1 genetic variations associated with hla-b27 interaction and disease severity of syndesmophytes formation in taiwanese ankylosing spondylitiserap1 hla-b27相关差异基因相互作用和疾病的严重程度syndesmophytes形成台湾强直性脊柱炎.pdf

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erap1 genetic variations associated with hla-b27 interaction and disease severity of syndesmophytes formation in taiwanese ankylosing spondylitiserap1 hla-b27相关差异基因相互作用和疾病的严重程度syndesmophytes形成台湾强直性脊柱炎

Wang et al. Arthritis Research Therapy 2012, 14:R125 /content/14/3/R125 RESEARCH ARTICLE Open Access ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis 1 2 3 2 2 4 Chin-Man Wang , Huei-Huang Ho , Su-Wei Chang , Yeong-Jian Jan Wu , Jing-Chi Lin , Pi-Yueh Chang , Jianming Wu5 and Ji-Yih Chen2* Abstract Introduction: Ankylosing spondylitis (AS) is a familial, heritable disease specified by syndesmophyte formation leading to an ankylosed spine. Endoplasmic reticulum aminopeptidase 1 (ERAP1) genetic variations have been widely proved to be associated with AS in several ethnic populations. The aim of this study was to investigate whether ERAP1 single nucleotide polymorphisms (SNPs) are associated with AS susceptibility and disease severity in Taiwanese. Methods: Four ERAP1 SNPs (rs27037, rs27980, rs27044 and rs30187) were genotyped in 797 Taiwanese AS patients and 1,150 healthy controls. Distributions of genotype and alleles were compared between AS patients and healthy controls, and among AS patients stratified by clinical parameters. Results: The SNP rs27037T allele appeared to be a risk factor for AS susceptibility (P = 5.5 × 10-5, OR 1.30, 95% CI: 1.15 to 1.48; GT+TT vs. GG P = 9.3 × 10-5, OR 1.49, 95% CI: 1.22 to 1.82). In addition, the coding SNP (cSNP) rs27044G allele (P = 1.5 × 10-4, OR 1.28, 95% CI: 1.13 to 1.46; CG+GG vs. CC, P = 1.7 × 10-3, OR 1.44, 95% CI: 1.15 to 1.81) and the cSNP rs30187T allele (P = 1.7 × 10-3, OR 1.23, 95% CI: 1.08 to 1.40; CT+TT vs. CC P = 6.1 × 10-3, OR 1.38, 95% CI: 1.10 to 1.74) were predisposing factors for AS. Notably, the rs27044G allele carriers (CG+GG vs. CC, P = 0.0