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

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

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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  • The selective sweep for lactase persistence has been modelled as originating between Central Europe and the Balkans ~4-6,000 years BC.

    “although the selective sweep has been modelled as originating between Central Europe and the Balkans ~4–6,000 years BC (ref. 34).”

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  1. [39]Hassan FA 1981 Demographic Archaeology New York Academic Press 298
  2. [58]Strabo 1969 The Geography of Strabo in eight volumes with an English translation of H.L.Jones London, Cambridge, Mass. Henry G. Bohn
  3. [59]Pavúk J 2005 Typologische Geschichte der Linearbandkeramik. Lüning J Friedrich C Zimmermann A Die Bandkeramik im 21 Jahrhundert: Symposium in der Abtei Brauweiler bei Köln 17 39
  4. [62]Lüning J 2005 Bandkeramische Hofplätze und absolute Chronologie der Bandkeramik. Lüning J Friedrich C Zimmermann A Die Bandkeramik im 21 Jahrhundert: Symposium in der Abtei Brauweiler bei Köln 49 74

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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.
Venue
PLoS Computational Biology
Published
2009-08-28
Volume
5
Issue
8
Pages
e1000491
ISSN
  • 1553-734X (ISSN-L)
  • 1553-7358
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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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