Family-based designs in the age of large-scale gene-association studies

Top Cited Papers
Publisher Website
Google Scholar
Abstract
Either population-based or family-based designs can be used in gene-association studies. Population-based designs use unrelated individuals; family-based designs use probands and their relatives, typically either parents or siblings. Genetic-association studies face the obstacles of population substructures and multiple testing. Family-based designs are favoured because they are robust against confounding due to population substructures and test both linkage and association. Case–control designs are preferred for the relative ease of data collection. They have modest power advantages, depending on the prevalence of the disease. Family-based designs can be extended to incorporate pedigrees and complex phenotypes. Screening tools are available for family-based designs that allow the multiple-testing problem, which is an important issue in whole-genome association studies, to be handled.