Publication: How to use an article about genetic association A: Background concepts
Issued Date
2009-01-07
Resource Type
ISSN
15383598
00987484
00987484
Other identifier(s)
2-s2.0-58149387637
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Mahidol University
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SCOPUS
Bibliographic Citation
JAMA - Journal of the American Medical Association. Vol.301, No.1 (2009), 74-81
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 A: Background concepts. JAMA - Journal of the American Medical Association. Vol.301, No.1 (2009), 74-81. doi:10.1001/jama.2008.901 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/28215
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Title
How to use an article about genetic association A: Background concepts
Other Contributor(s)
Hunter Medical Research Institute, Australia
John Hunter Hospital
University of Ioannina, School of Medicine
Tufts University School of Medicine
Mahidol University
Hunter Area Pathology Service
National Heart and Lung Institute
University of Leicester
McGill University
McMaster University, Faculty of Health Sciences
University of Newcastle, Australia
John Hunter Hospital
University of Ioannina, School of Medicine
Tufts University School of Medicine
Mahidol University
Hunter Area Pathology Service
National Heart and Lung Institute
University of Leicester
McGill University
McMaster University, Faculty of Health Sciences
University of Newcastle, Australia
Abstract
This is the first in a series of 3 articles serving as an introduction to clinicians wishing to read and critically appraise genetic association studies. We summarize the key concepts in genetics that clinicians must understand to review these studies, including the structure of DNA, transcription and translation, patterns of inheritance, Hardy-Weinberg equilibrium, and linkage disequilibrium. We review the types of DNA variation, including single-nucleotide polymorphisms (SNPs), insertions, and deletions, and how these can affect protein function. We introduce the idea of genetic association for both single-candidate gene and genome-wide association studies, in which thousands of genetic variants are tested for association with disease. We use the APOE polymorphism and its association with dementia as a case study to demonstrate the concepts and introduce the terminology used in this field. The second and third articles will focus on issues of validity and applicability. ©2009 American Medical Association. All rights reserved.