Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan.
Clin Chim Acta. 2010 May 2;411(9-10):714-8. doi: 10.1016/j.cca.2010.02.004. Epub 2010 Feb 6.
Membranous glomerulonephritis (MGN) is one of the most common causes of nephrotic syndrome in adults. NPHS1 encoding nephrin is a transmembrane protein of the immunoglobulin family. We clarified the relationship between NPHS1 gene polymorphisms and the susceptibility or progression of MGN.
We recruited a cohort of 132 biopsy-diagnosed MGN patients and 257 healthy subjects. Genotyping of three SNPs (rs401824, rs437168 and rs3814995) at chromosome positions 41034749 (5'UTR), 41026259(exon17) and 41034052 (exon 3) was performed using a Taqman SNP genotyping assay.
There was a significant difference in genotype frequency distribution of rs437168 polymorphism between MGN patients and controls. The results also showed that the frequency of the G allele was significantly higher in the patient group. Among the polymorphisms rs437168, rs401824 and rs3814995, no significant haplotype was shown in MGN patients. A stratified analysis revealed that a high disease progression in the AA genotype of rs401824 and GG genotype of rs437168 patients were associated with a low rate of remission.
The presence of the different genotypes of NPHS1 was associated with susceptibility of MGN and the remission of proteinuria during disease progression after the therapy.
膜性肾小球肾炎（MGN）是成人肾病综合征的最常见病因之一。编码足细胞裂孔膜蛋白nephrin 的 NPHS1 基因是免疫球蛋白家族的跨膜蛋白。我们阐明了 NPHS1 基因多态性与 MGN 的易感性或进展之间的关系。
我们招募了 132 例经活检诊断的 MGN 患者和 257 名健康对照者。使用 Taqman SNP 基因分型检测技术，对位于染色体位置 41034749（5'UTR）、41026259（exon17）和 41034052（exon 3）的三个 SNP（rs401824、rs437168 和 rs3814995）进行基因分型。
MGN 患者与对照组 rs437168 多态性的基因型频率分布存在显著差异。结果还显示，患者组 G 等位基因的频率明显较高。在 rs437168、rs401824 和 rs3814995 多态性中，MGN 患者没有显示出明显的单倍型。分层分析显示，rs401824 的 AA 基因型和 rs437168 的 GG 基因型患者的疾病进展较快与缓解率较低有关。
NPHS1 的不同基因型的存在与 MGN 的易感性以及治疗后疾病进展期间蛋白尿的缓解有关。
