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      Endothelial Nitric Oxide Synthase Affects the Progression of Autosomal Dominant Polycystic Kidney Disease

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          Abstract

          Background/Aim: The phenotypic variability of autosomal dominant polycystic kidney disease (ADPKD) cannot be explained only by various mutations of two known genes (PKD1 and PKD2), but the influence of other unknown factors should also be considered. Impairment of endothelial function has been observed in ADPKD patients. Our study tried to verify the hypothesis that endothelial nitric oxide synthase (ecNOS) gene polymorphisms in intron 4 could have some relevance to the progression of ADPKD. Methods: We examined 155 Czech patients with ADPKD (80 males, 75 females; mean age 43.4 ± 14.7 years) and 100 genetically unrelated healthy subjects (50 men, 50 women; mean age 51.2 ± 8.2 years). The genomic DNA was amplified by polymerase chain reaction and the products were separated on 1.5% agarose gel and visualised by ultraviolet transillumination. We compared subjects homozygous for the ecNOS b allele with subjects homozygous and heterozygous for the ecNOS a allele. Results: The frequencies of ecNOS b/b, ecNOS a/b and ecNOS a/a were 81% (81/100), 17% (17/100) and 2% (2/100), respectively, in the control group, 60% (30/50), 32% (16/50) and 8% (4/50), respectively, in ADPKD patients with end-stage renal failure (ESRF), and 68.5% (72/105), 28.6% (30/105) and 2.9% (3/105), respectively, in ADPKD patients with normal renal function. The two-tailed t test revealed that the frequency of the ecNOS a allele (ecNOS a/b and ecNOS a/a) in dialysed patients was significantly higher than in ADPKD patients with normal renal function (p < 0.05). Conclusion: The a allele of the ecNOS gene polymorphism showed a significantly higher incidence among patients with ESRF caused by ADPKD. The a allele might have a negative influence on the progression of ADPKD.

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          Author and article information

          Journal
          KBR
          Kidney Blood Press Res
          10.1159/issn.1420-4096
          Kidney and Blood Pressure Research
          S. Karger AG
          1420-4096
          1423-0143
          2002
          2002
          03 July 2002
          : 25
          : 2
          : 87-90
          Affiliations
          Departments of aNephrology and bMolecular Genetics, Charles University, Prague, Czech Republic
          Article
          63513 Kidney Blood Press Res 2002;25:87–90
          10.1159/000063513
          12077489
          © 2002 S. Karger AG, Basel

          Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

          Page count
          Figures: 1, Tables: 1, References: 16, Pages: 4
          Product
          Self URI (application/pdf): https://www.karger.com/Article/Pdf/63513
          Categories
          Original Paper

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