Copyright © 2004 by the European Society of Cardiology.
Editorial
On the interpretation of genetic association studies
a Cardiology Division and Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
b Program in Medical and Population Genetics, Broad Institute of Harvard University and Massachusetts Institute of Technology, Cambridge, MA, USA
c National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA
* Correspondence to: Robert E. Gerszten, MD, Cardiology Division and Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, 149 13th Street, Charlestown, MA 02129, USA. Fax: +1-617-726-1544 (E-mail: rgerszten@partners.org).
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This editorial refers to "Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis by E. Simeoni et al. on
page 1438 and "Asociation of hypo-responsive toll-like receptor 4 variants with risk of myocardial infarction by K. Edfeldt et al. on
page 1447
Genetic association studies seek to relate variation in human DNA sequence with a disease or trait. Compared with linkage analysis, the association study design provides greater power to detect common genetic variants conferring susceptibility to complex phenotypes such as atherosclerosis and myocardial infarction (MI).1 In a case-control study, a common and convenient association study design, the frequency of a harmful genetic variant is expected to be greater among cases than controls (a protective variant is less frequent in cases). Though the case-control design may be simple, interpreting the results of these genetic association studies has been far less straightforward.
In this issue, the results of
True positive
False positive
False negative
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Related articles in EHJ:
- Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis
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EHJ 2004 25: 1438-1446.[Abstract] [Full Text] - Association of hypo-responsive toll-like receptor 4 variants with risk of myocardial infarction
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