Journal Mobile Options
Table of Contents
Vol. 29, No. 6, 2010
Issue release date: May 2010
Section title: Original Paper
Cerebrovasc Dis 2010;29:528–537
(DOI:10.1159/000302738)

Association of a Genetic Variant in the ALOX5AP with Higher Risk of Ischemic Stroke: A Case-Control, Meta-Analysis and Functional Study

Domingues-Montanari S.e · Fernández-Cadenas I.e · del Rio-Espinola A.e · Corbeto N.e · Krug T.a, b · Manso H.a, c · Gouveia L.d · Sobral J.a, c · Mendioroz M.e · Fernández-Morales J.e · Alvarez-Sabin J.e · Ribó M.e · Rubiera M.e · Obach V.f · Martí-Fàbregas J.g · Freijo M.h · Serena J.i · Ferro J.M.b, d · Vicente A.M.a, c · Oliveira S.A.a, b · Montaner J.e
aInstituto Gulbenkian de Ciência, Oeiras, bInstituto de Medicina Molecular, cInstituto Nacional de Saúde Dr. Ricardo Jorge, dServiço de Neurologia, Hospital de Santa Maria, Lisboa, Portugal; eNeurovascular Research Laboratory and Neurovascular Unit, Neurology and Medicine Departments, Universitat Autònoma de Barcelona, Vall d’Hebron Hospital, fStroke Unit, Department of Neurological Sciences, Hospital Clinic and Institut d’Investigacions Biomédiques August Pi i Sunyer, University of Barcelona, and gDepartment of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, hDepartment of Neurology, Hospital de Basurto, Bilbao, and iDepartment of Neurology, Hospital Universitario Dr. Josep Trueta, Institut d’Investigació Biomèdica de Girona, Girona, Spain

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.



Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.



To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 7/30/2009
Accepted: 1/11/2010
Published online: 3/30/2010
Issue release date: May 2010

Number of Print Pages: 10
Number of Figures: 3
Number of Tables: 5

ISSN: 1015-9770 (Print)
eISSN: 1421-9786 (Online)

For additional information: http://www.karger.com/CED

Abstract

Background: Variants in the 5-lipoxygenase-activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) genes have first been associated with ischemic stroke (IS) through whole-genome linkage screens. However, association studies obtained conflicting results. We aimed to investigate the contribution of selected single nucleotide polymorphisms (SNPs) in these genes for the first time in a large Iberian population. Methods: A case-control design was used to analyze one SNP in ALOX5AP and five SNPs in PDE4D in a total of 1,092 IS patients and 781 healthy controls of two different subsets from Spain and Portugal. The analysis was adjusted for confounding variables and the results were integrated in a meta-analysis of all case-control studies. In addition, ALOX5AP gene expression levels were determined in controls and IS cases. Results: A first meta-analysis of both subsets showed that the T allele of the SG13S114 SNP in ALOX5AP was a risk factor for IS after Bonferroni correction [OR = 1.22 (1.06–1.40); p = 0.006]. A second meta-analysis of white populations confirmed these results [OR = 1.18 (1.07–1.31); p = 0.001]. ALOX5AP gene expression analysis in a subset of controls and cases revealed that the SG13S114 genotypes modulate mRNA levels of ALOX5AP (p = 0.001) and mRNA levels were higher in IS cases (2.8 ± 2.4%) than in controls (1.4 ± 1.3%; p = 0.003). No association of the variants in PDE4D with IS was observed in our study. Conclusions: The ALOX5AP SG13S114 variant is an independent risk factor for IS in the Iberian population and is associated with ALOX5AP expression levels. The role of this gene in stroke merits further investigation.

© 2010 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 7/30/2009
Accepted: 1/11/2010
Published online: 3/30/2010
Issue release date: May 2010

Number of Print Pages: 10
Number of Figures: 3
Number of Tables: 5

ISSN: 1015-9770 (Print)
eISSN: 1421-9786 (Online)

For additional information: http://www.karger.com/CED


Copyright / Drug Dosage / Disclaimer

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 or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
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.