Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/807760
- Title
- How to use an article about genetic association. A: background concepts
- Author/Creator
-
Attia, John;
Ioannidis, John P. A.;
Thakkinstian, Ammarin;
McEvoy, Mark;
Scott, Rodney J.;
Minelli, Cosetta;
Thompson, John;
Infante-Rivard, Claire;
Guyatt, Gordon
- Institution
- The University of Newcastle. Faculty of Health, School of Medicine and Public Health
- Description
- 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.
- Relation
- JAMA: Journal of the American Medical Association Vol. 301, Issue 1, p. 74-81
- Publisher Link
- http://dx.doi.org/10.1001/jama.2008.901
- Date
- 2009
- Publisher
- American Medical Association
- Keyword(s)
-
apolipoproteins e;
human chromosomes;
dementia;
DNA;
genetic research;
human genome;
linkage disequilibrium;
single nucleotide polymorphism;
Users' guide to the medical literature (Rennie D, ed.)
- Resource Type
- journal article
- Identifier
- http://hdl.handle.net/1959.13/807760
- Identifier
- ISSN:0098-7484
- Reviewed
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