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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/28214
Title: How to use an article about genetic association B: Are the results of the study valid?
Authors: John Attia
John P.A. Ioannidis
Ammarin Thakkinstian
Mark McEvoy
Rodney J. Scott
Cosetta Minelli
John Thompson
Claire Infante-Rivard
Gordon Guyatt
University of Newcastle, Australia
University of Ioannina, School of Medicine
Tufts University School of Medicine
Mahidol University
Hunter Area Pathology Service
University of Newcastle Faculty of Medicine and Health Sciences
National Heart and Lung Institute
University of Leicester
McGill University
McMaster University, Faculty of Health Sciences
Royal Newcastle Hospital
Keywords: Medicine
Issue Date: 14-Jan-2009
Citation: JAMA - Journal of the American Medical Association. Vol.301, No.2 (2009), 191-197
Abstract: In the first article of this series, we reviewed the basic genetics concepts necessary to understand genetic association studies. In this second article, we enumerate the major issues in judging the validity of these studies, framed as critical appraisal questions. Was the disease phenotype properly defined and accurately recorded by someone blind to the genetic information? Have any potential differences between disease and nondisease groups, particularly ethnicity, been properly addressed? In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification. Was measurement of the genetic variants unbiased and accurate? Methods for determining DNA sequence variation are not perfect and may have some measurement error. Do the genotype proportions observe Hardy-Weinberg equilibrium? This simple mathematic rule about the distribution of genetic groups may be one way to check for errors in reading DNA information. Have the investigators adjusted their inferences for multiple comparisons? Given the thousands of genetic markers tested in genome-wide association studies, the potential for false-positive and false-negative results is much higher than in traditional medical studies, and it is particularly important to look for replication of results. ©2009 American Medical Association. All rights reserved.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=58249089746&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/28214
ISSN: 15383598
00987484
Appears in Collections:Scopus 2006-2010

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