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.

人类行为遗传学领域已经回到了原点。它首先使用双胞胎/家庭研究来估计遗传和环境影响的相对重要性。随着大规模基因分型变得具有成本效益，全基因组关联研究 (GWAS) 深入了解了遗传影响的本质，并且使用 GWAS 数据来估计遗传力和遗传相关性的新方法为该领域注入了活力。然而，这些较新的 GWAS 方法尚未取代双胞胎/家庭研究。在这篇综述中，我们讨论了这两种方法在表征遗传和环境影响、行为表型测量和因果模型评估方面的优缺点，特别关注认知神经科学。这一讨论强调了双胞胎/家庭研究和 GWAS 如何相互补充和相互促进。