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VIEWPOINT

Taking Cardiovascular Genetic Association Studies to the Next Level

Geoffrey S. Ginsburg, MD, PhD^_*,,_*, Svati H. Shah, MD, MHS and Jeanette J. McCarthy, PhD^_*,

^_* Duke Institute for Genome Sciences and Policy, Durham, North Carolina
Division of Cardiology, Department of Medicine
Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina

Manuscript received April 20, 2007; revised manuscript received May 11, 2007, accepted May 23, 2007.

^_* Reprint requests and correspondence: Dr. Geoffrey S. Ginsburg, Duke Institute for Genome Sciences and Policy, Box 3382, Durham, North Carolina 27710. (Email: geoffrey.ginsburg{at}duke.edu).

Genetic information is beginning to have a direct impact on patient care and it is important that cardiologists appreciate the value and approaches to associating genetic variation and health outcomes. Genetic associations should be based on compelling genetic and biological hypotheses and should be statistically sound so as to reduce the possibility of "false discovery" in the setting of testing multiple hypotheses. Study designs should clearly define cases and controls and measurement of phenotypes. Finally, findings should be replicated in at least 1 independent cohort. Consideration of these principles should provide insight into disease biology based on genetic findings and encourage their meaningful adoption into clinical practice.

Abbreviations and Acronyms   CRP = C-reactive protein   DNA = deoxyribonucleic acid   LD = linkage disequilibrium   SNP = single nucleotide polymorphism