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Curr Opin Immunol. 2014 Oct;30:9-16. doi: 10.1016/j.coi.2014.05.001. Epub 2014 May 29.

Human genome variability, natural selection and infectious diseases.

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UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, United Kingdom. Electronic address:
Bioinformatics - Scientific Institute IRCCS E.MEDEA, 23842 Bosisio Parini, Italy.


The recent availability of large-scale sequencing DNA data allowed researchers to investigate how genomic variation is distributed among populations. While demographic factors explain genome-wide population genetic diversity levels, scans for signatures of natural selection pinpointed several regions under non-neutral evolution. Recent studies found an enrichment of immune-related genes subjected to natural selection, suggesting that pathogens and infectious diseases have imposed a strong selective pressure throughout human history. Pathogen-mediated selection often targeted regulatory sites of genes belonging to the same biological pathway. Results from these studies have the potential to identify mutations that modulate infection susceptibility by integrating a population genomic approach with molecular immunology data and large-scale functional annotations.

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