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

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(英文)

OBJECTIVE: To investigate the relationship between codon 54 gene polymorphism of the host defense 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 selected and divided into two groups. Group A consisted of 77 patients with glomerular IgA and C3 deposits, and Group AGM consisted of 70 patients with glomerular IgA, IgG, IgM, C3 and Clq deposits. Clinical features and laboratory relevant data of all patients were collected. One-hundred and forty healthy adults were recruited as normal controls. The MBP gene codon 54 GGC/GAC polymorphism was investigated by using polymerase chain reaction and restriction fragment length polymorphism. RESULTS: The genotype frequency of GGC/GAC heterozygotes was significantly higher in Group AGM as compared with that of Group A (41.4% vs 19.5%, P

目的 探讨机体防御分子甘露糖结合蛋白 (mannose bindingprotein ,MBP)基因第 5 4号密码子多态性与IgA肾病(IgAnephropathy ,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 5 4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 0 1) ,而GGC/GGC基因型的发生频率明显低于A组患者 (5 5 7%vs76 6 %,P <0 0 1)。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 2 36vs 0 136 ,P <0 0 5 ) ,而GGC等位基因的发生频率明显低于A组患者(0 76 4vs 0 86 4 ,P <0 0 5 ) ,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 0 6 -3 5 8)。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 .0 5 )。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?