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埃及系统性红斑狼疮和抗磷脂综合征女性患者的血浆膜联蛋白A5、抗膜联蛋白A5抗体及膜联蛋白A5基因多态性

Plasma annexin A5, anti-annexin A5 antibodies and annexin A5 polymorphism in Egyptian female patients with systemic lupus erythematosus and antiphospholipid syndrome.

作者信息

Nasef Aya, Ibrahim Mona, Riad Nermine, Mousa Somaia

机构信息

Clinical Pathology Department, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt.

出版信息

Clin Lab. 2014;60(1):133-7. doi: 10.7754/clin.lab.2013.130112.

Abstract

BACKGROUND

Annexin A5 exhibits anticoagulant properties that appear to be defective in patients with antiphospholipid syndrome (APS) resulting in repeated thrombosis and recurrent pregnancy loss (RPL). APS occurs frequently in association with systemic lupus erythematosus (SLE). The present study aimed to find out a possible relationship between annexin A5 (gene polymorphism, antibodies or plasma level) and the pathophysiology of SLE, APS and RPL.

METHODS

47 female patients divided into 3 groups (SLE, APS and RPL) and 20 healthy controls are included in the study. Detection of annexin A5 (-1C/T) gene polymorphism was done by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay. Anti-annexin A5 antibodies (IgG and IgM) and annexin A5 plasma level were measured by Enzyme Linked Immunosorbent Assay (ELISA).

RESULTS

The frequency of annexin A5 (-1C/T) polymorphism was significantly higher in SLE related groups (p = 0.02), but it did not correlate with RPL (p = 0.57) or annexin A5 level (p = 0.5). Anti-annexin A5 IgM level was significantly higher among APS patients and was associated with RPL (p = 0.005, odds ratio = 23.75, 95% confidence interval = 2.15 - 262.48).

CONCLUSIONS

Annexin A5 (-1C/T) gene mutation may play a role in the pathophysiology of SLE. Anti-annexin A5 IgM was the antibody associated with RPL in this group of APS patients. Annexin A5 plasma levels are not affected by the presence of annexin A5 (-1C/T) polymorphism.

摘要

背景

膜联蛋白A5具有抗凝特性,而抗磷脂综合征(APS)患者的该特性似乎存在缺陷,导致反复血栓形成和复发性流产(RPL)。APS常与系统性红斑狼疮(SLE)相关。本研究旨在找出膜联蛋白A5(基因多态性、抗体或血浆水平)与SLE、APS和RPL病理生理学之间可能的关系。

方法

本研究纳入47例女性患者,分为3组(SLE、APS和RPL)以及20名健康对照者。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析检测膜联蛋白A5(-1C/T)基因多态性。采用酶联免疫吸附测定(ELISA)检测抗膜联蛋白A5抗体(IgG和IgM)及膜联蛋白A5血浆水平。

结果

膜联蛋白A5(-1C/T)多态性在SLE相关组中的频率显著更高(p = 0.02),但与RPL(p = 0.57)或膜联蛋白A5水平(p = 0.5)无关。APS患者中抗膜联蛋白A5 IgM水平显著更高,且与RPL相关(p = 0.005,优势比 = 23.75,95%置信区间 = 2.15 - 262.48)。

结论

膜联蛋白A5(-1C/T)基因突变可能在SLE的病理生理学中起作用。在这组APS患者中,抗膜联蛋白A5 IgM是与RPL相关的抗体。膜联蛋白A5血浆水平不受膜联蛋白A5(-1C/T)多态性存在的影响。

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