甘露糖结合凝集素2基因变异型是类风湿关节炎中反应性系统性淀粉样变的一个危险因素。

Variant mannose-binding lectin 2 genotype is a risk factor for reactive systemic amyloidosis in rheumatoid arthritis.

作者信息

Maury C P J, Aittoniemi J, Tiitinen S, Laiho K, Kaarela K, Hurme M

机构信息

Department of Medicine, University of Helsinki, Helsinki, Finland.

出版信息

J Intern Med. 2007 Oct;262(4):466-9. doi: 10.1111/j.1365-2796.2007.01838.x.

DOI:10.1111/j.1365-2796.2007.01838.x

PMID:17875183

Abstract

OBJECTIVE

The aim of this study was to investigate whether polymorphism of the mannose-binding lectin 2 (MBL2) gene is related to the occurrence of systemic AA amyloidosis in patients with rheumatoid arthritis (RA).

METHODS

MBL2 structural gene polymorphisms at codon 52 (CGT-->TGT, Arg-->Cys; D), codon 54 (GGC-->GAC, Gly-->Asp; B) and codon 57 (GGA-->GAA, Gly--> Glu; C), and MBL2 promoter region polymorphism at position -221 (G-->C) were examined in 57 patients with RA complicated by biopsy-proven reactive amyloidosis and 51 control RA patients without amyloid.

RESULTS

A strong association was found between the presence of a structural MBL2 gene variant O (B, D or C) and the occurrence of amyloidosis in RA patients: 29 of 57 (50.9%) of the RA patients with amyloid had a variant allele compared with 12 of 51 (23.5%) of the RA patients without amyloid (OR 3.37, 95% CI 1.47-7.72; P = 0.004).

CONCLUSION

We conclude that variant MBL2 structural genotype constitutes a significant risk factor for reactive amyloidosis in RA and that the increased risk is probably related to MBL-mediated impairment of mononuclear phagocyte function.

摘要

目的

本研究旨在调查甘露糖结合凝集素2（MBL2）基因多态性是否与类风湿关节炎（RA）患者系统性AA淀粉样变性的发生有关。

方法

对57例经活检证实患有反应性淀粉样变性的RA患者和51例无淀粉样变性的对照RA患者，检测其MBL2结构基因第52密码子（CGT→TGT，精氨酸→半胱氨酸；D）、第54密码子（GGC→GAC，甘氨酸→天冬氨酸；B）和第57密码子（GGA→GAA，甘氨酸→谷氨酸；C）的多态性，以及MBL2启动子区-221位（G→C）的多态性。

结果

发现MBL2结构基因变异体O（B、D或C）的存在与RA患者淀粉样变性的发生之间存在密切关联：57例患有淀粉样变性的RA患者中有29例（50.9%）存在变异等位基因，而51例无淀粉样变性的RA患者中有12例（23.5%）存在变异等位基因（比值比3.37，95%可信区间1.47 - 7.72；P = 0.004）。