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Separating Gold From Fool's Gold

Josée Dupuis, PhD; Christopher J. O’Donnell, MD, MPH

JAMA. 2007;297:529-531.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

The completion of the Human Genome sequence¹ has been accompanied by the rapid appearance of genetic association studies using large numbers of genetic markers to search for genetic variation underlying common, major health problems such as cardiovascular disease and cancer. Physicians will increasingly encounter articles in the literature analyzing screens of ever larger numbers of common genetic markers. An excellent example is the study of 280 single nucleotide polymorphisms (SNPs) in 24 venous thrombosis candidate genes reported by Smith and colleagues in this issue of JAMA.² Such studies are currently focused on the role of genetic variation in candidate gene regions, but a "gold rush" now under way of unbiased genome-wide association studies (GWAS) using hundreds of thousands of SNPs will generate a vast number of potentially valid genetic associations. Clinicians and scientists alike will need to exercise care . . . [Full Text of this Article]

Author Affiliations: Biostatistics Department, Boston University School of Public Health, Boston, Mass (Dr Dupuis); National Heart, Lung, and Blood Institute (NHLBI) and NHLBI's Framingham Heart Study (Dr O’Donnell); and Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston (Dr O’Donnell).

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Genetic Association Studies and False Discoveries—Reply
Nicholas L. Smith, Lucia A. Hindorff, Susan R. Heckbert, Kenneth Rice, Thomas Lumley, Frits R. Rosendaal, and Bruce M. Psaty
JAMA. 2007;297(22):2478.
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Association of Genetic Variations With Nonfatal Venous Thrombosis in Postmenopausal Women
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Gene Discovery in Venous Thrombosis: Progress and Promise
Bovill
JAMA 2008;299:1362-1363.
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Genetic Association Studies and False Discoveries--Reply
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