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首页> 外文期刊>European cytokine network >Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis
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Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis

机译：伊朗强直性脊柱炎患者IL-23受体基因多态性的测定

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Introduction: The result of recent genome-wide association studies revealed that, in addition to HLA-B27, a few non-HLAgenes are associated with susceptibility to ankylosing spondylitis (AS) in Caucasian populations. According to these studies, IL-23R is one of the genes that is associated with AS. In this study, we evaluated five important single nucleotide polymorphisms (SNPs) of the IL-23R gene which confers susceptibility to AS, and its effects on the severity of the disease in HLA-B27 positive and negative patients and several subtypes of HLA-B27. Materials and methods: The study population consisted of 294 AS patients and 352 age-, sex-, and ethnicity-matched healthy controls. All patients were examined by rheumatologists, and met modified, NewYork criteria for the disease. Five SNPs (rs1004819, rs11209032, rs1495965, rs11465804, and rs1004819) of the IL-23R gene were genotyped using the Real-Time PCR TaqMan genotyping method. Results: We found that only rs1004819 has a significant association with AS, and that the remaining four SNP alleles are not associated with AS. Also, there was no association between these five polymorphisms and BASDAI, BASFI, and BASMI indices. Two haplotypes, ACGAT and ACGAG, were found to be associated with the heritability of AS. In addition, two significant, protective diplotypes (D8, GCGAG/GTGGG; and D9, ACGAG/GCGAG) were discovered. Conclusion: This study supported our previous findings regarding the differences between the genetic patterns of AS in Iranian patients compared with those in other parts of the world.
机译：简介：最近的全基因组关联研究的结果表明，除HLA-B27外，一些非HLA基因与白种人人群对强直性脊柱炎（AS）的敏感性有关。根据这些研究，IL-23R是与AS相关的基因之一。在这项研究中，我们评估了IL-23R基因的五个重要单核苷酸多态性（SNP），这些基因赋予AS易感性，及其对HLA-B27阳性和阴性患者以及HLA-B27几种亚型的疾病严重性的影响。材料和方法：研究人群包括294名AS患者和352名年龄，性别和种族相匹配的健康对照者。所有患者均接受风湿病学家检查，并符合该疾病的改良纽约标准。使用实时PCR TaqMan基因分型方法对IL-23R基因的五个SNP（rs1004819，rs11209032，rs1495965，rs11465804和rs1004819）进行基因分型。结果：我们发现只有rs1004819与AS有显着关联，而其余四个SNP等位基因与AS没有关联。而且，这五个多态性与BASDAI，BASFI和BASMI索引之间没有关联。发现两种单体型ACGAT和ACGAG与AS的遗传力有关。此外，还发现了两个重要的保护性双倍型（D8，GCGAG / GTGGG; D9，ACGAG / GCGAG）。结论：这项研究支持了我们先前关于伊朗患者与世界其他地区的AS遗传模式之间差异的发现。

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