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Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy.

https://arctichealth.org/en/permalink/ahliterature160579
Source
Diabetologia. 2008 Jan;51(1):86-90
Publication Type
Article
Date
Jan-2008
Author
P. Ihalmo
M. Wessman
M A Kaunisto
R. Kilpikari
M. Parkkonen
C. Forsblom
H. Holthöfer
P-H Groop
Author Affiliation
Folkhälsan Institute of Genetics, Folkhälsan Research Center, University of Helsinki, Helsinki, Finland.
Source
Diabetologia. 2008 Jan;51(1):86-90
Date
Jan-2008
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Adult
Cross-Sectional Studies
Diabetes Mellitus, Type 1 - genetics
Diabetic Nephropathies - diagnosis - genetics
Female
Finland
Genetic Predisposition to Disease
Humans
Intracellular Signaling Peptides and Proteins - genetics
Male
Membrane Proteins - genetics
Podocytes - metabolism
Polymorphism, Single Nucleotide
Sialoglycoproteins - genetics
Abstract
The slit diaphragm is an adhesion and signalling protein complex linking the interdigitating podocyte foot processes in the kidney glomerulus, and mutations in slit diaphragm-associated genes result in severe proteinuria. Here we report a genetic association analysis of four slit diaphragm genes, LRRC7, KIRREL, NPHS2 and ACTN4, in a Finnish diabetic nephropathy cohort.
A total of 40 single nucleotide polymorphisms (SNPs) were genotyped in 1103 patients with type 1 diabetes. The patients were classified according to their renal status, and the genotype data were analysed in a cross-sectional case-control setting. To confirm positive associations, four SNPs were genotyped in 1,025 additional patients with type 1 diabetes.
No associations with diabetic nephropathy were observed for any of the analysed SNPs. The SNPs were not associated with the time from the onset of diabetes to the diagnosis of nephropathy or with glomerular filtration rate or AER as quantitative variables. In a sex-specific sub-analysis, the variants rs979972 and rs749701 in the first intron of ACTN4 were nominally associated with diabetic nephropathy in females, with odds ratios of 1.81 (95% CI 1.18-2.79, p = 0.007) and 1.93 (95% CI 1.26-2.96, p = 0.003) respectively.
Our study has not found any evidence that common variants in LRRC7, KIRREL, NPHS2 and ACTN4 contribute to susceptibility to diabetic nephropathy in Finnish patients with type 1 diabetes.
PubMed ID
17968527 View in PubMed
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