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

作者：Lo Wan Yu^*; Chen Shih Yin; Wang Huang Joe; Shih Hung Chang; Chen Cheng Hsu; Tsai Chang Hai; Tsai Fuu Jen

来源：Clinica Chimica Acta, 2010, 411(9-10): 714-718.

DOI：10.1016/j.cca.2010.02.004

• Gene polymorphism
• Remission
• NPHS1
• Membranous glomerulonephritis

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.

• 出版日期2010-5-2
• 单位中国医科大学