Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population.
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.
Lo
Wan-Yu
WY
Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan. lo@mail.cmuh.org.tw
Chen
Shih-Yin
SY
Wang
Huang-Joe
HJ
Shih
Hung-Chang
HC
Chen
Cheng-Hsu
CH
Tsai
Chang-Hai
CH
Tsai
Fuu-Jen
FJ
D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003404:Creatinine / Q000097:blood / Q000652:urine; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D015433:Glomerulonephritis, Membranous / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D006239:Haplotypes / Q000235:genetics; D006417:Hematuria / Q000209:etiology / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016366:Open Reading Frames / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011507:Proteinuria / Q000209:etiology / Q000235:genetics; D013624:Taiwan; D016896:Treatment Outcome
D020121:5' Untranslated Regions; D007166:Immunosuppressive Agents; D008565:Membrane Proteins; C113267:nephrin; D003404:Creatinine