Arteriosclerosis, Thrombosis, and Vascular Biology. 2002;22:1058-1061
doi: 10.1161/01.ATV.0000026801.56080.14
doi: 10.1161/01.ATV.0000026801.56080.14
© 2002 American Heart Association, Inc.
Editorials |
SNP Judgments and Freedom of Association
From the Robarts Research Institute, London, Ontario, Canada
Correspondence to Robert A. Hegele, MD, FRCPC, FACP, Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Dr, London, Ontario, Canada N6A 5K8. E-mail robert.hegele@ rri.on.ca
An extract of the first 250 words of the full text is provided, because this article has no abstract. |
Genetic association studies using single nucleotide polymorphisms (SNPs) and insertion/deletion variants are a common feature on the atherosclerosis research landscape. A recent Medline search using the terms "[gene] AND [polymorphism] AND [X]," where X was "atherosclerosis," "vascular biology," thrombosis, " or "lipoprotein," found >4000 original articles. Furthermore, the yearly number of new reports has been growing exponentially since 1983 (Figure). The allure of SNPs, the release of millions of SNP-based markers from dedicated consortia, and the availability of cost-effective high-throughput detection methods are converging to create a potential explosion of genetic association studies in atherosclerosis. Although the standards and quality seem to be improving, there is nevertheless a risk that SNP-based association analyses will squander academic trust and scientific resources owing to unsatisfactory design and/or analysis.
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Like all experimental designs and model systems, genetic association studies in human samples have strengths and limitations.1–3 Their potential strengths include the simplicity of design, ease of noninvasive sampling, reliability and cost-effectiveness of genotyping, uncomplicated statistical analysis, and the potential for clear interpretation and direct relevance to human biology. But many factors collude to undermine confidence in association studies. Often the initial publication of a positive association is followed by reports of non-replication or refutation. There can be
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