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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/28215
Title: How to use an article about genetic association A: Background concepts
Authors: John Attia
John P.A. Ioannidis
Ammarin Thakkinstian
Mark McEvoy
Rodney J. Scott
Cosetta Minelli
John Thompson
Claire Infante-Rivard
Gordon Guyatt
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
Keywords: Medicine
Issue Date: 7-Jan-2009
Citation: JAMA - Journal of the American Medical Association. Vol.301, No.1 (2009), 74-81
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.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=58149387637&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/28215
ISSN: 15383598
00987484
Appears in Collections:Scopus 2006-2010

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