Cited by 569Digestive system and related healthGenetic and phenotypic traits in livestockForensic and Genetic Research

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The Origins of Lactase Persistence in Europe

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Itan, Yuval, Powell, Adam, Beaumont, Mark A., Burger, Joachim, Thomas, Mark G.·2009·PLoS Computational Biology

DOI 10.1371/journal.pcbi.1000491PMC PMC2722739

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Abstract

Lactase persistence (LP) is common among people of European ancestry, but with the exception of some African, Middle Eastern and southern Asian groups, is rare or absent elsewhere in the world. Lactase gene haplotype conservation around a polymorphism strongly associated with LP in Europeans (-13,910 C/T) indicates that the derived allele is recent in origin and has been subject to strong positive selection. Furthermore, ancient DNA work has shown that the--13,910*T (derived) allele was very rare or absent in early Neolithic central Europeans. It is unlikely that LP would provide a selective advantage without a supply of fresh milk, and this has lead to a gene-culture coevolutionary model where lactase persistence is only favoured in cultures practicing dairying, and dairying is more favoured in lactase persistent populations. We have developed a flexible demic computer simulation model to explore the spread of lactase persistence, dairying, other subsistence practices and unlinked genetic markers in Europe and western Asia's geographic space. Using data on--13,910*T allele frequency and farming arrival dates across Europe, and approximate Bayesian computation to estimate parameters of interest, we infer that the--13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly in association with the dissemination of the Neolithic Linearbandkeramik culture over Central Europe. Furthermore, our results suggest that natural selection favouring a lactase persistence allele was not higher in northern latitudes through an increased requirement for dietary vitamin D. Our results provide a coherent and spatially explicit picture of the coevolution of lactase persistence and dairying in Europe.

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“Studies using geographic explicit simulations to address the mode and direction of advance of lactase persistence mutations provide excellent examples of the usefulness of new computational methods to address these questions and to reconstruct the evolutionary history of selected traits (Gerbault et al., 2009; Itan et…”
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Authors: Itan, Y., Powell, A., Beaumont, M. A., Burger, J., & Thomas, M. G.
Affiliations: University College London (GB)
University of Reading (GB)
Corresponding author: Thomas, Mark G.
ORCID: Itan, Yuval
Powell, Adam
Beaumont, Mark A.
Thomas, Mark G.
Venue: PLoS Computational Biology
Publisher: Public Library of Science (PLoS)
Published: 2009-08-28
Volume: 5
Issue: 8
Pages: e1000491
ISSN: 1553-734X (ISSN-L)
1553-7358
DOI: 10.1371/journal.pcbi.1000491
PMC: PMC2722739
OpenAlex: W2151227169
Cited by: 569
References: 79
Citations by year: 2026: 16 · 2025: 52 · 2024: 18 · 2023: 17 · 2022: 20 · 2021: 31 · 2020: 39 · 2019: 43 · 2018: 26 · 2017: 44 · 2016: 29 · 2015: 46 · 2014: 46 · 2013: 39 · 2012: 41
FWCI: 19.89
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (unspecified)
Locations: PLoS Computational Biology (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
UCL Discovery (University College London) (submittedVersion)
Figshare (submittedVersion, cc-by)
MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
Explore Bristol Research (submittedVersion)
Bristol Research (University of Bristol) (submittedVersion, cc-by)
Funders: Arts and Humanities Research Council
Topics: Health Sciences › Medicine › Gastroenterology › Digestive system and related health
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Keywords: lactase persistence, lactase gene, dairy production, gene-culture coevolution, positive selection, Neolithic, demic diffusion, approximate Bayesian computation, vitamin D, European ancestry, ancient DNA, subsistence strategies, West Asia
MeSH terms: Alleles, Bayes Theorem, Computer Simulation, Diet, Europe, Gene Frequency, Genetic Markers, Geography, Haplotypes, Humans, Lactose, Polymorphism, Genetic, Vitamin D, Evolution, Molecular, Computational Biology, Lactase

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The Origins of Lactase Persistence in Europe

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