Abstract
To help uncover the genetic determinants of complex disease, a scientist often designs an association study using either unrelated subjects or family members within pedigrees. But which of these two subject recruitment paradigms is preferable? This editorial addresses the debate over the relative merits of family- and population-based genetic association studies. We begin by briefly recounting the evolution of genetic epidemiology and the rich crossroads of statistics and genetics. We then detail the arguments for the two aforementioned paradigms in recent and current applications. Finally, we speculate on how the debate may progress with the emergence of next-generation sequencing technologies.
Highlights
To help uncover the genetic determinants of complex disease, a scientist often designs an association study using either unrelated subjects or family members within pedigrees
The process of genetic epidemiology has been summarized via the following stages: descriptive epidemiology, familial aggregation, segregation analysis, linkage analysis, fine mapping, genetic association, cloning, and characterization [4]
Analysts have been able to circumvent steps (3)-(6) for gene mapping by employing hypothesis-free genome-wide association studies (GWAS) that examine the association between a phenotype and 100K to > 1M single-nucleotide polymorphisms (SNPs) across the genome
Summary
To help uncover the genetic determinants of complex disease, a scientist often designs an association study using either unrelated subjects or family members within pedigrees. The majority of classic analytic methods in genetic epidemiology, including segregation and linkage analyses, require pedigrees for study. In this editorial we focus on association studies (both candidate gene and GWAS strategies) where the subject recruitment paradigm is not automatically determined. Studies can analyze unrelated subjects (collected from population-based or case-control studies) using standard statistics from regression or categorical data analysis.
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