Abstract
Many traits of interest are highly heritable and genetically complex, meaning that much of the variation they exhibit arises from differences at numerous loci in the genome. Complex traits and their evolution have been studied for more than a century, but only in the last decade have genome-wide association studies (GWASs) in humans begun to reveal their genetic basis. Here, we bring these threads of research together to ask how findings from GWASs can further our understanding of the processes that give rise to heritable variation in complex traits and of the genetic basis of complex trait evolution in response to changing selection pressures (i.e., of polygenic adaptation). Conversely, we ask how evolutionary thinking helps us to interpret findings from GWASs and informs related efforts of practical importance.
Highlights
Understanding the processes that generate differences in complex traits among individuals, populations, and species has been a central challenge to evolutionary biology since Darwin and Galton
We briefly review the earlier work, move to what models tell us about genetic architecture and how they can be related to genome-wide association studies (GWASs) discoveries
Understanding the evolutionary processes that produce heritable variation in complex traits is essential to interpreting the results of GWASs
Summary
Understanding the processes that generate differences in complex traits among individuals, populations, and species has been a central challenge to evolutionary biology since Darwin and Galton. Since 2007, genome-wide association studies (GWASs) in humans have identified many thousands of variants that are reproducibly associated with hundreds of complex traits, including susceptibility to a wide variety of diseases [177, 188] These studies have begun to reveal the genetic architecture of complex traits, the numbers and genomic distributions of the variants that affect complex traits, and the distributions of their frequencies and effect sizes. Combining information about the effects of individual loci on traits with other kinds of data—notably, changes in allele frequency across space and time—should help us learn about polygenic adaptation With these objectives in mind, we review what is known about the processes that underlie variation in complex traits among individuals and populations. We have not aimed to be exhaustive, instead focusing on what we think is most relevant for realizing the opportunities for progress
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