Hahn Won Ho, Cho Byoung Soo, Kim Sung Do, Kim Su Kang, Kang Sungwook
Department of Pediatrics, East West Kidney Diseases Research Institute, School of Medicine, Kyung Hee University, Dondaemun-gu, Hoegi-dong #1, Seoul, 130-701, Korea.
Pediatr Nephrol. 2009 Jul;24(7):1329-36. doi: 10.1007/s00467-009-1146-5. Epub 2009 Mar 12.
We have carried out a study with the aim of investigating the association between single nucleotide polymorphisms (SNPs) of the IL-1 gene cluster and childhood IgA nephropathy (IgAN). SNPs of the IL-1 alpha, IL-1 beta, and IL-1 receptor antagonist (RN) genes (IL1A, IL1B, and IL1RN, respectively) were analyzed in 182 patients with childhood IgAN and in 500 healthy controls. The IgAN patients were also dichotomized and compared with respect to proteinuria (<4 mg and >or=4 mg/m(2) per hour, respectively), the presence or absence of podocyte foot process effacement, and the presence of pathologically early and advanced disease markers, such as interstitial fibrosis, tubular atrophy, or global sclerosis. Significant differences in SNP frequencies were observed for the IL1B and IL1RN genes (rs1143627, rs3917356, and rs1143633 in the IL1B gene, and rs928940, rs439154, and rs315951 in the IL1RN gene). Moreover, rs1143627, rs3917356, and rs1143633 of IL1B were found to be significantly associated with the presence of podocyte foot process effacement. Our results suggest that the IL1B and IL1RN genes are associated with increased susceptibility to IgAN in children. They also suggest that the development of proteinuria in IgAN is related to IL1A and that podocyte foot process effacement is associated with IL1B.
我们开展了一项研究，旨在调查白细胞介素-1（IL-1）基因簇的单核苷酸多态性（SNP）与儿童免疫球蛋白A肾病（IgAN）之间的关联。对182例儿童IgAN患者和500名健康对照者分析了IL-1α、IL-1β和IL-1受体拮抗剂（RN）基因（分别为IL1A、IL1B和IL1RN）的SNP。还将IgAN患者分为两组，分别就蛋白尿情况（每小时<4mg和≥4mg/m²）、足细胞足突消失与否以及病理早期和晚期疾病标志物（如间质纤维化、肾小管萎缩或球性硬化）的存在情况进行比较。观察到IL1B和IL1RN基因的SNP频率存在显著差异（IL1B基因中的rs1143627、rs3917356和rs1143633，以及IL1RN基因中的rs928940、rs439154和rs315951）。此外，发现IL1B的rs1143627、rs3917356和rs1143633与足细胞足突消失的存在显著相关。我们的结果表明，IL1B和IL1RN基因与儿童IgAN易感性增加有关。这些结果还表明，IgAN中蛋白尿的发生与IL1A有关，而足细胞足突消失与IL1B有关。
