J Med Genet. 2007 Mar;44(3):161-5. Epub 2006 Dec 8.

Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease.

Luo AK, Jefferson BK, Garcia MJ, Ginsburg GS, Topol EJ.

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Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Abstract

Coronary artery disease and acute myocardial infarction are complex traits in which there has been recent research to identify the principal genes that engender susceptibility or provide protection. Although there has been exceptional progress in the technology, which now allows genotyping of hundreds of thousands of single-nucleotide polymorphisms in each individual, there remains a pattern of inconsistency in the studies performed to date, in part owing to the difficulties in defining cases and controls. In this paper, salient issues to facilitate research in this important field are reviewed.

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Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease.

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