Pensando na evolução das características complexas na era das pesquisas de associação em todo o genoma: mero acaso, fortuita necessidade ou design inteligente?

terça-feira, fevereiro 04, 2020

Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies

Annual Review of Genomics and Human Genetics

Vol. 20:461-493 (Volume publication date August 2019)

First published as a Review in Advance on July 5, 2019

Guy Sella1,2,3 and Nicholas H. Barton4

1Department of Biological Sciences, Columbia University, New York, NY 10027, USA; email:

2Department of Systems Biology, Columbia University, New York, NY 10032, USA

3Program for Mathematical Genomics, Columbia University, New York, NY 10032, USA

4Institute of Science and Technology Austria, 3400 Klosterneuburg, Austria; email:

Copyright © 2019 Guy Sella and Nicholas H. Barton. This work is licensed under a Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See credit lines of images or other third party material in this article for license information.

Source/Fonte: Ars Technica


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.

Keywords evolution, genome-wide association study, GWAS, quantitative genetics, complex traits, polygenic adaptation, genetic architecture