Suppr超能文献

台湾人群中 NPHS1 基因遗传多态性与膜性肾小球肾炎的关系。

Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population.

机构信息

Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan.

出版信息

Clin Chim Acta. 2010 May 2;411(9-10):714-8. doi: 10.1016/j.cca.2010.02.004. Epub 2010 Feb 6.

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

背景

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。

方法

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。

结果

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。

结论

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。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验