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机体防御分子甘露糖结合蛋白的遗传变异与IgA肾病肾小球免疫沉积相关

Genetic variation of mannose-binding protein associated with glomerular immun e deposition in IgA nephropathy

摘要:

目的 探讨机体防御分子甘露糖结合蛋白(mannose-binding protein, MBP)基因第54号密码子多态性与IgA肾病(IgA nephropathy, IgAN)患者肾小球免疫沉积类型的关系。方法 选取147例IgAN患者,依据肾小球免疫沉积类型,分为两组:A组,77例为单纯IgA伴C3沉积;AGM组,70例为IgA,IgG,IgM伴C3,C1q沉积。收集所有患者的临床和实验室相关资料。另选取140名正常健康成人作正常对照。使用PCR-RFLP法分析MBP基因第54号密码子GGC/GAC多态性。结果 IgAN中AGM组患者MBP基因GGC/GAC基因型的发生频率明显高于A组(41.4% vs 19.5%, P<0.01),而GGC/GGC基因型的发生频率明显低于A组患者(55.7% vs 76.6%, P<0.01)。IgAN的AGM组患者GAC等位基因的发生频率明显高于A组患者(0.236 vs 0.136, P<0.05),而GGC等位基因的发生频率明显低于A组患者(0.764 vs 0.864, P<0.05),变异型等位基因(GAC)与IgAN的大量免疫沉积明显相关(OR=1.95, 95%CI: 1.06-3.58)。 无论在A组还是在AGM组,GAC等位基因携带者中起病时有前驱感染史者均显著多于GGC纯合子(P<0.05)。结论 机体防御分子MBP的遗传变异与IgAN肾小球免疫沉积多样性有关,MBP基因变异型等位基因与IgAN患者大量免疫沉积密切相关。

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abstracts:

Objective To investigate the relationship between codon 54 gene polymorphism of the host d efense molecule, mannose-binding protein (MBP), and the patterns of glomerular immune deposition in IgA nephropathy (IgAN). Methods IgAN patients with different patterns of glomerular immune deposition were selec ted and divided into two groups. Group A consisted of 77 patients with glomerul ar IgA and C3 deposits, and Group AGM consisted of 70 patients with glomerular I gA, IgG, IgM, C3 and Clq deposits. Clinical features and laboratory relevant da ta of all patients were collected. One-hundred and forty healthy adults were r ecruited as normal controls. The MBP gene codon 54 GGC/GAC polymorphism was inv estigated by using polymerase chain reaction and restriction fragment length pol ymorphism.Results The genotype frequency of GGC/GAC heterozygotes was significantly higher in Grou p AGM as compared with that of Group A (41.4% vs 19.5%, P<0.01) or normal subjects (41.4% vs 26.4%, P<0.05), while no difference was found in the distribution of MBP genotypes between Group A and normal subjects. GAC allele f requency was also higher in Group AGM than that in Group A (0.24 vs 0.14, P <0.05) or normal subjects (0.24 vs 0.15, P<0.05). The variant allele (GAC) was markedly associated with Group AGM (OR=1.95, 95%CI: 1.06-3.58). In both Group A and Group AGM, more patients carrying the variant allele had episo des of upper respiratory or gastrointestinal infections prior to the onset of Ig AN than those with wild homozygotes (GGC/GGC).Conclusions Genetic variation of the host defense molecule, MBP, may be involved in the form ation of the diverse patterns of glomerular immune deposition in IgAN. The vari ant allele of the MBP gene may partially account for abundant immune deposits in some IgAN patients.

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作者: 龚如军 [1] 刘志红 [1] 陈朝红 [1] 黎磊石 [1]
期刊: 《中华医学杂志(英文版)》2002年115卷2期 192-196页 SCIMEDLINEISTICCSCDBP
分类号: R69
栏目名称: ORIGINAL ARTICLES
DOI: 10.3760/j.issn:0366-6999.2002.02.008
发布时间: 2004-01-08
基金项目:
the Jiangsu Provincial Science and Technology Foun dation for Youth
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