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Table of Contents
Vol. 63, No. 2, 2007
Issue release date: February 2007
Section title: Original Paper
Hum Hered 2007;63:134–143
(DOI:10.1159/000099185)

Assessing Environmental Modifiers of Disease Risk Associated with Rare Mutations

Whittemore A.S.
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, Calif., USA

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: June 30, 2006
Accepted: August 29, 2006
Published online: February 02, 2007
Issue release date: February 2007

Number of Print Pages: 10
Number of Figures: 2
Number of Tables: 2

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

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

Abstract

Objective: As disease-predisposing mutations are increasingly identified, there is growing need to assess the effects of lifestyle and environmental factors on disease risks in mutation carriers. Such assessment is difficult when the mutations are rare and evaluating them in large population samples is costly. Methods: This paper describes four study designs for evaluating the effects of environmental exposures in carriers of rare disease-predisposing mutations. Results: The strengths and weaknesses of the designs are assessed, and strategies for analyzing the data obtained from such designs are considered. Conclusions: When exposure effects in noncarriers are well-established and exposure is independent of carrier status in the population of disease-free controls, the case-only design provides a feasible and efficient method for inferring effects in carriers. When exposure effects in noncarriers are not well established, the most feasible design options are those that compare exposures in carrier cases to either untyped controls or to carrier controls. These two designs have complementary strengths and weaknesses; thus inferences are stronger when measures of association estimated using the two designs are consistent.

© 2007 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: June 30, 2006
Accepted: August 29, 2006
Published online: February 02, 2007
Issue release date: February 2007

Number of Print Pages: 10
Number of Figures: 2
Number of Tables: 2

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

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


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.