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人类白细胞抗原B*27基因多态性对中国脊柱关节炎临床表型的影响

Polymorphisms of human leukocyte antigen B*27 on clinical phenotype of spondyloarthritis in Chinese.

作者信息

Ma Hai-Jun, Yin Qing-Feng, Liu Yun, Wu Yin, Zhu Tie-Chui, Guo Ming-Hao

机构信息

Department of Rheumatology & Immunology, Medical School of Nanjing University, Nanjing, China.

Division of Rheumatology, the First Affiliated Hospital, Xinxiang Medical University, Weihui, China.

出版信息

J Clin Lab Anal. 2018 Feb;32(2). doi: 10.1002/jcla.22275. Epub 2017 Jun 20.

Abstract

BACKGROUND

In recent years, an ever-increasing number of alleles of human leukocyte antigen B27 (HLA-B27) have been identified. This study aimed to establish an updated method for HLA-B27 subtyping, and to investigate the impact of HLA-B27 polymorphisms on the clinical phenotype of spondyloarthritis (SpA).

METHODS

Overall, 184 SpA patients were recruited for analyzing diversity of HLA-B*27 via an updated high-resolution polymerase chain reaction amplification with sequence specific primers (PCR-SSP).

RESULTS

The prevalence of HLA-B27 was 94.0%, and four subtypes were identified including HLA-B2704 (77.5%), B2705 (20.2%), B2707 (1.7%), and B2724 (0.6%). There was an obvious male predominance (P=.05) and markedly elevated C-reaction protein (CRP) in B27 positive SpA (P<.01). In multivariate linear regression analysis, the elevated CRP was positively associated with HLA-B27 positivity (regression coefficient B=46.1, P=.0003), grade of sacroiliitis (B=47.5, P=.0032), and male gender (B=20.4, P=.0041). Notably, a male predilection was also found in B2705 positive SpA while B*2707 was associated with older age, higher positive family history, and higher prevalence of extra-articular features (all P<.05).

CONCLUSIONS

In this study, an updated PCR-SSP technique to identify increasing alleles of HLA-B27 was developed and their different effects on clinical manifestations of SpA were demonstrated. Genotyping of HLA-B27 would shed light on our understanding of the pathogenesis of SpA.

摘要

背景

近年来,已鉴定出越来越多的人类白细胞抗原B27(HLA-B27)等位基因。本研究旨在建立一种更新的HLA-B27亚型分型方法,并研究HLA-B27多态性对脊柱关节炎(SpA)临床表型的影响。

方法

共招募了184例SpA患者,通过更新的高分辨率序列特异性引物聚合酶链反应扩增(PCR-SSP)分析HLA-B*27的多样性。

结果

HLA-B27的患病率为94.0%,鉴定出四种亚型,包括HLA-B2704(77.5%)、B2705(20.2%)、B2707(1.7%)和B2724(0.6%)。B27阳性SpA患者中男性明显占优势(P=0.05),C反应蛋白(CRP)明显升高(P<0.01)。在多变量线性回归分析中,CRP升高与HLA-B27阳性呈正相关(回归系数B=46.1,P=0.0003)、骶髂关节炎分级(B=47.5,P=0.0032)和男性性别(B=20.4,P=0.0041)。值得注意的是,B2705阳性SpA中也发现男性偏好,而B*2707与年龄较大、家族史阳性率较高和关节外表现患病率较高相关(所有P<0.05)。

结论

在本研究中,开发了一种更新的PCR-SSP技术来鉴定越来越多的HLA-B27等位基因,并证明了它们对SpA临床表现的不同影响。HLA-B27基因分型将有助于我们对SpA发病机制的理解。

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