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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions / genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • Creatinine / blood
  • Creatinine / urine
  • Female
  • Gene Frequency / genetics
  • Genotype
  • Glomerulonephritis, Membranous / complications
  • Glomerulonephritis, Membranous / diagnosis
  • Glomerulonephritis, Membranous / drug therapy
  • Glomerulonephritis, Membranous / genetics*
  • Glomerulonephritis, Membranous / metabolism
  • Haplotypes / genetics
  • Hematuria / etiology
  • Hematuria / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Open Reading Frames / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Proteinuria / etiology
  • Proteinuria / genetics
  • Taiwan
  • Treatment Outcome

Substances

  • 5' Untranslated Regions
  • Immunosuppressive Agents
  • Membrane Proteins
  • nephrin
  • Creatinine