Parry R G, Gillespie K M, Parnham A, Clark A G, Mathieson P W
Academic Renal Unit, University of Bristol, Southmead Hospital, Bristol BS10 5NB, UK.
Clin Sci (Lond). 1999 Jun;96(6):665-8.
Minimal change nephropathy (MCN) is an important cause of nephrotic syndrome, especially in children, that is strongly associated with atopy and IgE production. The immunogenetics of MCN are poorly understood. Interleukin-4 (IL-4) is the critical cytokine involved in the development of atopy. Polymorphic regions in the genes encoding IL-4 itself and the IL-4 receptor have been demonstrated that may predispose to increased activity. We have analysed these polymorphisms in 149 patients with MCN and 73 controls to test the hypothesis that these loci are involved in genetic predisposition to MCN. In our populations there were no polymorphisms in the IL-4 promoter. We did confirm allelic variation in a dinucleotide repeat in the second intron of the IL-4 gene, but there was no significant difference between allele distributions in MCN and controls. Similarly, allele frequencies for the IL-4 receptor alpha chain polymorphism were similar in patients and controls. Genetic loci which are believed to influence IL-4 responsiveness and to predispose to atopy do not appear to be associated with susceptibility to MCN.
微小病变性肾病(MCN)是肾病综合征的重要病因,在儿童中尤为常见,且与特应性和IgE产生密切相关。目前对MCN的免疫遗传学了解甚少。白细胞介素-4(IL-4)是参与特应性疾病发展的关键细胞因子。已证实编码IL-4本身及IL-4受体的基因中的多态性区域可能导致活性增加。我们分析了149例MCN患者和73例对照者的这些多态性,以检验这些基因座参与MCN遗传易感性的假说。在我们的研究人群中,IL-4启动子没有多态性。我们确实证实了IL-4基因第二内含子中二核苷酸重复序列的等位基因变异,但MCN患者和对照者的等位基因分布没有显著差异。同样,患者和对照者中IL-4受体α链多态性的等位基因频率相似。据信影响IL-4反应性并易患特应性疾病的基因座似乎与MCN易感性无关。