Publication: How to use an article about genetic association B: Are the results of the study valid?
Issued Date
2009-01-14
Resource Type
ISSN
15383598
00987484
00987484
Other identifier(s)
2-s2.0-58249089746
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
JAMA - Journal of the American Medical Association. Vol.301, No.2 (2009), 191-197
Suggested Citation
John Attia, John P.A. Ioannidis, Ammarin Thakkinstian, Mark McEvoy, Rodney J. Scott, Cosetta Minelli, John Thompson, Claire Infante-Rivard, Gordon Guyatt How to use an article about genetic association B: Are the results of the study valid?. JAMA - Journal of the American Medical Association. Vol.301, No.2 (2009), 191-197. doi:10.1001/jama.2008.946 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/28214
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
How to use an article about genetic association B: Are the results of the study valid?
Other Contributor(s)
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
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
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.