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dc.contributor.authorVatsiou, Alexandra
dc.contributor.authorBazin, Eric
dc.contributor.authorGaggiotti, Oscar Eduardo
dc.identifier.citationVatsiou , A , Bazin , E & Gaggiotti , O E 2016 , ' Changes in selective pressures associated with human population expansion may explain metabolic and immune related pathways enriched for signatures of positive selection ' BMC Genomics , vol. 17 , 504 .
dc.identifier.otherPURE: 242975062
dc.identifier.otherPURE UUID: 634b4d87-beee-421b-bb1e-7d6a9dededf0
dc.identifier.otherScopus: 84979524767
dc.descriptionThis work was supported by the Marie - Curie Initial Training Network INTERCROSSING (European Commission FP7). OEG was further supported by the MASTS pooling initiative (The Marine Alliance for Science and Technology for Scotland)en
dc.description.abstractBackground: The study of local adaptation processes is a very important research topic in the field of population genomics. There is a particular interest in the study of human populations because they underwent a process of rapid spatial expansion and faced important environmental changes that translated into changes in selective pressures.New mutations may have been selected for in the new environment and previously existing genetic variants may have become detrimental. Immune related genes may have been released from the selective pressure exerted by pathogens in the ancestral environment and new variants may have been positively selected due to pathogens present in the newly colonized habitat. Also, variants that had a selective advantage in past environments may have become deleterious in the modern world due to external stimuli including climatic, dietary and behavioral changes, which could explain the high prevalence of some polygenic diseases such as diabetes and obesity. Results: We perform an enrichment analysis to identify gene sets enriched for signals of positive selection in humans. We used two genome scan methods, XPCLR and iHS to detect selection using a dense coverage of SNP markers combined with two gene set enrichment approaches. We identified immune related gene sets that could be involved in the protection against pathogens especially in the African population. We also identified the glycolysis & gluconeogenesis gene set, related to metabolism, which supports the thrifty genotype hypothesis invoked to explain the current high prevalence of diseases such as diabetes and obesity. Extending our analysis to the gene level, we found signals for 23 candidate genes linked to metabolic syndrome, 13 of which are new candidates for positive selection.  Conclusions: Our study provides a list of genes and gene sets associated with immunity and metabolic syndrome that are enriched for signals of positive selection in three human populations (Europeans, Africans and Asians). Our results highlight differences in the relative importance of pathogens as drivers of local adaptation indifferent continents and provide new insights into the evolution and high incidence of metabolic syndrome in modern human populations.
dc.relation.ispartofBMC Genomicsen
dc.rights© 2016 The Author(s). Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.en
dc.subjectHuman migrationen
dc.subjectPopulation expansionen
dc.subjectPolygenic selectionen
dc.subjectGenome scansen
dc.subjectGene set enrichment analysisen
dc.subjectRB Pathologyen
dc.subjectQH426 Geneticsen
dc.subjectEcology, Evolution, Behavior and Systematicsen
dc.titleChanges in selective pressures associated with human population expansion may explain metabolic and immune related pathways enriched for signatures of positive selectionen
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews.School of Biologyen
dc.contributor.institutionUniversity of St Andrews.Marine Alliance for Science & Technology Scotlanden
dc.contributor.institutionUniversity of St Andrews.Scottish Oceans Instituteen
dc.description.statusPeer revieweden

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