2003
DOI: 10.1097/01.lab.0000080600.49276.31
|View full text |Cite
|
Sign up to set email alerts
|

Genetic Polymorphism of NPHS1 Modifies the Clinical Manifestations of Ig A Nephropathy

Abstract: SUMMARY:Nephrin, the molecule responsible for congenital nephrotic syndrome of Finnish type, is crucial in maintaining the glomerular filtration barrier. Recently, its complete gene structure and common gene polymorphisms in its exons have been reported, although the functional and clinical significance of these polymorphisms has not yet been elucidated. We investigated a possible association of the NPHS1 polymorphisms with the development of Ig A nephropathy (IgAN), as well as the clinical and histologic mani… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

1
10
0
1

Year Published

2005
2005
2016
2016

Publication Types

Select...
7
1

Relationship

1
7

Authors

Journals

citations
Cited by 17 publications
(12 citation statements)
references
References 21 publications
1
10
0
1
Order By: Relevance
“…However a nonsynonymous polymorphism in the NPHS1 gene has been associated with proteinuria in IgA glomerulonephritis [31]. Whereas heterozygous changes in ACTN4, NPHS1 and TRPC6 usually result in autosomal dominant FSGS, variants in other genes that represent the carrier state for recessive FSGS warrant further examination for an association with proteinuria in TBMN.…”
Section: Discussionmentioning
confidence: 99%
“…However a nonsynonymous polymorphism in the NPHS1 gene has been associated with proteinuria in IgA glomerulonephritis [31]. Whereas heterozygous changes in ACTN4, NPHS1 and TRPC6 usually result in autosomal dominant FSGS, variants in other genes that represent the carrier state for recessive FSGS warrant further examination for an association with proteinuria in TBMN.…”
Section: Discussionmentioning
confidence: 99%
“…16 Briefly, the scores for cellular proliferation and the increase of matrix in the mesangium were graded into five grades ranging from 0 (minimal change) to 4 (diffuse global marked change). Other glomerular and tubulointerstitial lesions were graded from 0 to 4 according to their incidence.…”
Section: Histological Analysismentioning
confidence: 99%
“…It is interesting that these genetic defects were different from those described by Lahdenkari et al (40) in a Finnish group of patients with MCNS. The NPHS1 polymorphism Glu117Lys was previously described in association with decreased creatinine clearance in patients with IgA nephropathy (41). According to the literature, the allele frequency of this polymorphism is 36.7% in an ethnically matched control population (17).…”
Section: Molecular Geneticsmentioning
confidence: 99%