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基于人群的系统性红斑狼疮患者队列中甘露糖结合凝集素基因变异与疾病严重程度及感染的关联

Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients.

作者信息

Garred P, Voss A, Madsen H O, Junker P

机构信息

Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, Copenhagen, Denmark.

出版信息

Genes Immun. 2001 Dec;2(8):442-50. doi: 10.1038/sj.gene.6363804.

Abstract

This study describes the importance of mannose-binding lectin (MBL) variant alleles for systemic lupus erythematosus (SLE) and accompanying infections in a population-based cohort. MBL alleles were determined in 99 SLE patients recruited from a representative Danish region. Patients were classified according to the 1982 revised ACR criteria as definite SLE (D-SLE) (n = 77) fulfilling > or =4 criteria and incomplete SLE (I-SLE) (n = 22) with 0.99, respectively). A meta-analysis of eight previously published studies suggested that the presence of MBL variant alleles confer a 1.6 times overall increased risk for D-SLE (P < 0.00001). MBL variant allele carriers had higher disease activity (SLEDAI-index) in a 2-year follow-up period (P = 0.02) and had an increased risk of acquiring complicating infections in general (P = 0.03) and respiratory infections in particular (P = 0.0006). Only in SLE patients fulfilling > or =4 ACR criteria an increased frequency of MBL variant alleles was found. MBL variant alleles were also associated with increased risk of disease activity and of complicating infections indicating that the MBL gene is an SLE disease modifier locus.

摘要

本研究描述了甘露糖结合凝集素(MBL)变异等位基因对基于人群队列中的系统性红斑狼疮(SLE)及伴发感染的重要性。对从丹麦一个代表性地区招募的99例SLE患者测定了MBL等位基因。根据1982年修订的美国风湿病学会(ACR)标准,患者被分类为符合≥4条标准的确诊SLE(D-SLE)(n = 77)和不完全SLE(I-SLE)(n = 22)。对八项先前发表研究的荟萃分析表明,MBL变异等位基因的存在使D-SLE的总体风险增加1.6倍(P < 0.00001)。在为期2年的随访期内,MBL变异等位基因携带者具有更高的疾病活动度(SLEDAI指数)(P = 0.02),并且总体上发生并发感染的风险增加(P = 0.03),尤其是呼吸道感染(P = 0.0006)。仅在符合≥4条ACR标准的SLE患者中发现MBL变异等位基因的频率增加。MBL变异等位基因还与疾病活动度增加及并发感染风险增加相关,表明MBL基因是一个SLE疾病修饰位点。

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