Twin studies to GWAS: there and back again

Abstract

The field of human behavioral genetics has come full circle. It began by using twin/family studies to estimate the relative importance of genetic and environmental influences. As large-scale genotyping became cost-effective, genome-wide association studies (GWASs) yielded insights about the nature of genetic influences and new methods that use GWAS data to estimate heritability and genetic correlations invigorated the field. Yet these newer GWAS methods have not replaced twin/family studies. In this review, we discuss the strengths and weaknesses of the two approaches with respect to characterizing genetic and environmental influences, measurement of behavioral phenotypes, and evaluation of causal models, with a particular focus on cognitive neuroscience. This discussion highlights how twin/family studies and GWAS complement and mutually reinforce one another.

Keywords: causality; environment; family studies; genes; genetics; heritability.