• Open Access

PERSPECTIVE: Evolutionary genetics as a tool to target genes involved in phenotypes of medical relevance


Evelyne Heyer, MNHN, Eco-Anthropologie, UMR 5145, CNRS-MNHN-P7, Musée de l’Homme, Paris, 75116 France.
Tel.: +33 1440 5725; fax: +33 1440 57241; e-mail: heyer@mnhn.fr


There is an increasing interest in detecting genes, or genomic regions, that have been targeted by natural selection. Indeed, the evolutionary approach for inferring the action of natural selection in the human genome represents a powerful tool for predicting regions of the genome potentially associated with disease and of interest in epidemiological genetic studies. Here, we review several examples going from candidate gene studies associated with specific phenotypes, including nutrition, infectious disease and climate adaptation, to whole genome scans for natural selection. All these studies illustrate the power of the evolutionary approach in identifying regions of the genome having played a major role in human survival and adaptation.