17 research outputs found
Great Saphenous Vein Transposition to the Forearm for Dialysis Vascular Access; An under used Autologous Option?
Objective Monitoring of Disease Activity in Wegener's Granulomatosis by Measurement of Serum C-Reactive Protein Concentration
Objective Monitoring of Disease Activity in Wegener's Granulomatosis by Measurement of Serum C-Reactive Protein Concentration
The clinical outcome and toxicity of high-dose chemotherapy and autologous stem cell transplantation in patients with myeloma or amyloid and severe renal impairment: a British society of blood and marrow transplantation study
Subcutaneous Epoetin Beta in Renal Anemia: An Open Multicenter Dose Titration Study of Patients on Continuous Peritoneal Dialysis
Reasons for Producing Guidelines on Anemia of Chronic Renal Failure: Dialysis Outcome Quality Initiative of the National Kidney Foundation
A proposal for standardized grading of chronic changes in native kidney biopsy specimens
IP1BImmunopathology of vascular and renal diseases and of organ and celltransplantatio
Sialic Acids Content Analysis of the Innovator and Biosimilar Darbepoetin Alfa by Fluorometric HPLC Assay
Genetic variation of DKK3 may modify renal disease severity in ADPKD
Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations indicate that genetic background may account for 32 to 42% of the variance in estimated GFR (eGFR) before ESRD and 43 to 78% of the variance in age at ESRD onset, but the genetic modifiers are unknown. Here, we conducted a high-throughput single-nucleotide polymorphism (SNP) genotyping association study of 173 biological candidate genes in 794 white patients from 227 families with PKD1. We analyzed two primary outcomes: (1) eGFR and (2) time to ESRD (renal survival). For both outcomes, we used multidimensional scaling to correct for population structure and generalized estimating equations to account for the relatedness among individuals within the same family. We found suggestive associations between each of 12 SNPs and at least one of the renal outcomes. We genotyped these SNPs in a second set of 472 white patients from 229 families with PKD1 and performed a joint analysis on both cohorts. Three SNPs continued to show suggestive/significant association with eGFR at the Dickkopf 3 (DKK3) gene locus; no SNPs significantly associated with renal survival. DKK3 antagonizes Wnt/β-catenin signaling, which may modulate renal cyst growth. Pending replication, our study suggests that genetic variation of DKK3 may modify severity of ADPKD resulting from PKD1 mutations. Copyright © 2010 by the American Society of Nephrology