Families or Unrelated: The Evolving Debate in Genetic Association Studies

[摘要] To help uncover the genetic determinants of complex disease, a scientist often designs an association study usingeither unrelated subjects or family members within pedigrees. But which of these two subject recruitment paradigmsis preferable? This editorial addresses the debate over the relative merits of family- and population-based geneticassociation studies. We begin by briefly recounting the evolution of genetic epidemiology and the rich crossroads ofstatistics and genetics. We then detail the arguments for the two aforementioned paradigms in recent and currentapplications. Finally, we speculate on how the debate may progress with the emergence of next-generation sequencingtechnologies.