Statistical challenges in genetic association analyses: Populationbased versus family-based studies

Abstract

Genetic association tests provide clues on chromosomal locations of putative genes underlying complex traits, both qualitative (such as disease status) and quantitative (such as measurable precursors of clinical outcomes). One can adopt either a population-based or a family-based study design to generate genotype and phenotype data necessary to carry out the tests of association. In this article, we provide an overview of the two contrasting study designs, the statistical issues pertaining to each of these study designs as well as their relative advantages and disadvantages. We also outline the current statistical challenges in interpreting association findings in the presence of population stratification and in carrying out appropriate comparisons of the powers of the association tests based on the two study designs.