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Impact of Selection and Demography on the Diffusion of Lactase Persistence

Gerbault, P; Moret, C; Currat, M; Sanchez-Mazas, A; (2009) Impact of Selection and Demography on the Diffusion of Lactase Persistence. PLOS ONE , 4 (7) , Article e6369. 10.1371/journal.pone.0006369. Green and gold open access

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Background: The lactase enzyme allows lactose digestion in fresh milk. Its activity strongly decreases after the weaning phase in most humans, but persists at a high frequency in Europe and some nomadic populations. Two hypotheses are usually proposed to explain the particular distribution of the lactase persistence phenotype. The gene-culture coevolution hypothesis supposes a nutritional advantage of lactose digestion in pastoral populations. The calcium assimilation hypothesis suggests that carriers of the lactase persistence allele(s) (LCT*P) are favoured in high-latitude regions, where sunshine is insufficient to allow accurate vitamin-D synthesis. In this work, we test the validity of these two hypotheses on a large worldwide dataset of lactase persistence frequencies by using several complementary approaches.Methodology: We first analyse the distribution of lactase persistence in various continents in relation to geographic variation, pastoralism levels, and the genetic patterns observed for other independent polymorphisms. Then we use computer simulations and a large database of archaeological dates for the introduction of domestication to explore the evolution of these frequencies in Europe according to different demographic scenarios and selection intensities.Conclusions: Our results show that gene-culture coevolution is a likely hypothesis in Africa as high LCT*P frequencies are preferentially found in pastoral populations. In Europe, we show that population history played an important role in the diffusion of lactase persistence over the continent. Moreover, selection pressure on lactase persistence has been very high in the North-western part of the continent, by contrast to the South-eastern part where genetic drift alone can explain the observed frequencies. This selection pressure increasing with latitude is highly compatible with the calcium assimilation hypothesis while the gene-culture coevolution hypothesis cannot be ruled out if a positively selected lactase gene was carried at the front of the expansion wave during the Neolithic transition in Europe.

Title:Impact of Selection and Demography on the Diffusion of Lactase Persistence
Open access status:An open access publication. A version is also available from UCL Discovery.
Publisher version:http://dx.doi.org/10.1371/journal.pone.0006369
Additional information:© 2009 Gerbault et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. This work was supported by the Swiss National Foundation (SNF) grant #3100A0-112651 to A.S-M (SNF: http://www.snf.ch/E/Pages/default.aspx>). The funders had no rule in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
UCL classification:UCL > School of Arts and Social Sciences > Faculty of Social and Historical Sciences > Anthropology

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