伊朗强直性脊柱炎患者的 HLA-B27 亚型和肿瘤坏死因子α启动子区多态性。

HLA-B27 subtypes and tumor necrosis factor alpha promoter region polymorphism in Iranian patients with ankylosing spondylitis.

机构信息

Molecular Immunology Research Center, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran, Rheumatology Research Centre, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Eur Cytokine Netw. 2009 Mar;20(1):17-20. doi: 10.1684/ecn.2009.0143.

DOI:10.1684/ecn.2009.0143

PMID:19318316

Abstract

BACKGROUND

HLA-B27 is an MHC class I molecule that is strongly associated with ankylosing spondylitis (AS). TNF-alpha, as an important cytokine in inflammatory joint disease, might have a role in the process of AS. This study was performed to determine HLA-B27 subtypes among Iranian patients with AS, and to investigate TNF-alpha gene polymorphisms in the patient groups.

METHODS

Ninety seven AS patients (74 HLA-B27-positive and 23 HLA-B27-negative) and 137 healthy normal subjects (2 HLA-B27-positive) were enrolled in this study. HLA-B27 positive patients were screened using the polymerase chain reaction, with sequence specific primers (PCR-SSP), for B*27 subtyping. All patients and the controls were also investigated for determination of TNF-alpha polymorphisms using the same method.

RESULTS

Just two subtypes were detected in our patients, namely B2705 (63.4%) and B2702 (36.6%). The study of TNF-alpha polymorphisms at position -238 showed that the A allele and AA genotype were significantly over-represented in all patient groups in comparison with the control group (p < 0.001). At position -308, while the A allele and AA genotype were significantly over-represented in the whole patient group (p = 0.01), there was no significant difference between the AS groups and the control group.

CONCLUSION

It could be suggested that a polymorphism within the TNF-alpha gene at -238 play an important role in AS, although this polymorphism was not related to HLA-B27 subtypes.

摘要

背景

HLA-B27 是一种 MHC Ⅰ类分子，与强直性脊柱炎（AS）强烈相关。TNF-α 作为炎症性关节疾病中的一种重要细胞因子，可能在 AS 发病过程中发挥作用。本研究旨在确定伊朗 AS 患者的 HLA-B27 亚型，并研究患者群体中 TNF-α 基因多态性。

方法

本研究纳入了 97 例 AS 患者（74 例 HLA-B27 阳性和 23 例 HLA-B27 阴性）和 137 名健康正常对照者（2 例 HLA-B27 阳性）。采用聚合酶链反应-序列特异性引物（PCR-SSP）对 HLA-B27 阳性患者进行 B*27 亚分型筛选。采用相同方法对所有患者和对照者进行 TNF-α 多态性检测。

结果

我们的患者中仅检测到两种亚型，即 B2705（63.4%）和 B2702（36.6%）。TNF-α 基因-238 位多态性研究显示，与对照组相比，所有患者组的 A 等位基因和 AA 基因型均显著过度表达（p < 0.001）。-308 位，虽然整个患者组的 A 等位基因和 AA 基因型显著过度表达（p = 0.01），但 AS 组与对照组之间无显著差异。