Acharya Bishnu, Shirakawa Toshiro, Pungky Ardanykusuma, Damanik Parlin, Massi Muh Nasrum, Miyata Masahiro, Matsuo Masafumi, Gotoh Akinobu
Department of Pediatrics, Kobe University School of Medicine, Kobe, Japan.
Am J Nephrol. 2005 Jan-Feb;25(1):30-5. doi: 10.1159/000083729. Epub 2005 Feb 1.
BACKGROUND/AIMS: Minimal change nephrotic syndrome (MCNS) in children is frequently associated with allergy and immunoglobulin E (IgE) production. T-helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, have been implicated in the regulation of IgE production. We investigated the associations of gene polymorphisms of IL-4, IL-13, and signal transducer and activator 6 (STAT6) in Indonesian children with MCNS (n = 84) and controls with neither allergic nor renal disease (n = 61).
Polymerase chain reaction-restriction fragment length polymorphism was used to determine the IL-4 promoter gene polymorphism (-590C/T) and IL-13 gene polymorphism (4257G/A), and direct sequencing was used for the STAT6 3S untranslated region (2964G/A) polymorphism.
There was a significant difference between the MCNS group and the controls in the genotypic distribution of IL-4 and IL-13 gene polymorphism. In the case of the IL-4 promoter gene, the frequency of the CC homozygote was significantly lower in the MCNS group than in the controls, while, in the case of IL-13, the frequency of the GG homozygote was significantly lower in the MCNS group. However, there was no difference between the MCNS group and the controls in the STAT6 gene polymorphism.
The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS.
背景/目的:儿童微小病变肾病综合征(MCNS)常与过敏及免疫球蛋白E(IgE)产生相关。辅助性T细胞2型细胞因子,如白细胞介素(IL)-4和IL-13,参与了IgE产生的调节。我们调查了印度尼西亚MCNS患儿(n = 84)及既无过敏也无肾脏疾病的对照儿童(n = 61)中IL-4、IL-13及信号转导和转录激活因子6(STAT6)基因多态性的关联。
采用聚合酶链反应-限制性片段长度多态性方法检测IL-4启动子基因多态性(-590C/T)和IL-13基因多态性(4257G/A),并采用直接测序法检测STAT6 3′非翻译区(2964G/A)多态性。
MCNS组与对照组在IL-4和IL-13基因多态性的基因型分布上存在显著差异。就IL-4启动子基因而言,MCNS组CC纯合子频率显著低于对照组;而就IL-13而言,MCNS组GG纯合子频率显著低于对照组。然而,MCNS组与对照组在STAT6基因多态性上无差异。
IL-4和IL-13基因的遗传变异可能与MCNS的易感性相关。