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J Med Genet 2007;44:161-165 doi:10.1136/jmg.2006.045732
  • Review

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

  1. Albert K Luo1,
  2. Brian K Jefferson2,
  3. Mario J Garcia3,
  4. Geoffrey S Ginsburg4,
  5. Eric J Topol5
  1. 1Cae Western Reserve University School of Medicine, Cleveland, Ohio, USA
  2. 2Cleveland Clinic, Cleveland, Ohio, USA
  3. 3Mt Sinai Medical Center, New York, New York, USA
  4. 4Duke University, Durham, North Carolina, USA
  5. 5Scripps Genomic Medicine, La Jolla, California, USA
  1. Correspondence to:
 Dr E J Topol
 Scripps Genomic Medicine, The Scripps Research Institute, MEM-275, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA; etopol{at}scripps.edu
  • Received 3 August 2006
  • Accepted 12 November 2006
  • Revised 30 October 2006
  • Published Online First 8 December 2006

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.

Footnotes

  • Funding: The work was supported by a specialised Center of Clinically Oriented Research (SCCOR) NIH Grant P 50 HL077107.

  • Competing interests: None declared.

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