Genetic association studies in cardiology

The last decade has witnessed the emergence of the genetic association study into the mainstream clinical literature. Technological advances and the Human Genome Project have resulted in widespread interest in exploring these new variables in clinical disease. Although the concept of relating genetic variation to disease is exciting, this excitement must be tempered by the many limitations of such analyses. Here we offer a perspective piece on genetic association studies in cardiology. We begin with a fundamental research and clinical interest—linking genes with disease. We then concentrate the body of the article on the statistical aspects of these studies that are often overlooked or underemphasized. We then use specific examples from the literature to illustrate some of our statistical considerations. We then focus on the distinction between association and causation and conclude with perspectives on how this field of study may move forward in a productive manner.