association between endoplasmic reticulum aminopeptidase-1 (erap-1) and susceptibility to ankylosing spondylitis in iran.
نویسندگان
چکیده
ankylosing spondylitis (as) is an inflammatory arthritis, which affects mainly spine and sacroiliac joints. according to recent studies, erap1 is the second most common candidate gene for as susceptibility after hla-b27. the aim of this study was to determine the association of erap1 gene polymorphisms with as in iranian population. the study group comprised 387 iranian as patients and 316 healthy controls from iran. using real time pcr allelic discrimination method, we genotyped four snps (rs30187, rs469876, rs13167972 and rs27434) of erap1. we found that rs30187 and rs27434 were significantly associated with as in iranian population (p=6×10-5, p=7×10-3, respectively). the rs30187 t/t genotype was associated with as compared with c/c genotype (p=1.5×10-5). the rs27434 g/g genotype was inversely associated with as (p=5×10-3). two specific haplotypes including: rs30187/ rs469876/ rs13167972/ rs27434 taaa and cagg were associated with increased and decreased risk of as in iranian population, respectively. these results indicated that erap1 snps and haplotypes were associated with as in iranian population.
منابع مشابه
Association between endoplasmic reticulum aminopeptidase-1 (ERAP-1) and susceptibility to ankylosing spondylitis in Iran.
Ankylosing spondylitis (AS) is an inflammatory arthritis, which affects mainly spine and sacroiliac joints. According to recent studies, ERAP1 is the second most common candidate gene for AS susceptibility after HLA-B27. The aim of this study was to determine the association of ERAP1 gene polymorphisms with AS in Iranian population.The study group comprised 387 Iranian AS patients and 316 healt...
متن کاملBioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis
According to the results of the first genome-wide association study of ankylosing spondylitis (AS), endoplasmic reticulum aminopeptidase 1 (ERAP1) may serve an important role. However, a number of case-control studies have not been able to replicate this result using the same genetic markers. In the present study, the role of common genetic variants of ERAP1 in AS was investigated using two-sta...
متن کاملSilencing or inhibition of endoplasmic reticulum aminopeptidase 1 (ERAP1) suppresses free heavy chain expression and Th17 responses in ankylosing spondylitis
OBJECTIVE Human leucocyte antigen (HLA)-B27 and endoplasmic reticulum aminopeptidase 1 (ERAP1) are strongly associated with ankylosing spondylitis (AS). ERAP1 is a key aminopeptidase in HLA class I presentation and can potentially alter surface expression of HLA-B27 free heavy chains (FHCs). We studied the effects of ERAP1 silencing/inhibition/variations on HLA-B27 FHC expression and Th17 respo...
متن کاملASSOCIATION OF HLA-B27 WITH ANKYLOSING SPONDYLITIS IN ISFAHAN, IRAN
Using a standard microcytotoxicity (NIH) technique of tissue typing, the HLA-B27 antigen was identified in 30 out of 34 patients (HH.2%) with classical ankylosing spondylitis (AS), compared to 6 out of 70 controls (H.6%) (P < 0.005). We also found this antigen in 8 out of 76 (10.5%) patients with non-AS arthritis.
متن کاملEndoplasmic reticulum aminopeptidases in the pathogenesis of ankylosing spondylitis.
There has been significant progress in our understanding of the pathogenesis of AS. The advent of genome-wide association studies has increased the known loci associated with AS to more than 40. The endoplasmic reticulum resident aminopeptidases (ERAP) 1 and 2 were identified in this manner and are of particular interest. There appears to be a genetic as well as a functional interaction of ERAP...
متن کاملTLR-mediated secretion of endoplasmic reticulum aminopeptidase 1 from macrophages.
Macrophages play an important role in host defense under several immunological, inflammatory, and/or infectious conditions. In our previous work, we demonstrated that endoplasmic reticulum aminopeptidase 1 (ERAP1) was secreted from macrophages in response to LPS and IFN-γ, and it enhanced their phagocytic activity. In this study, we analyzed the mechanism of LPS/IFN-γ-induced ERAP1 secretion. L...
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عنوان ژورنال:
iranian journal of allergy, asthma and immunologyجلد ۱۱، شماره ۴، صفحات ۲۹۴-۳۰۰
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