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.
Highlights
Lactase persistence (LP) is an autosomal dominant trait enabling the continued production of the enzyme lactase throughout adult life
Since adult consumption of fresh milk was only possible after the domestication of animals, it is likely that lactase persistence coevolved with the cultural practice of dairying, it is not known when lactase persistence first arose in Europe or what factors drove its rapid spread
We have developed a simulation model of the spread of lactase persistence, dairying, and farmers in Europe, and have integrated genetic and archaeological data using newly developed statistical approaches
Summary
Lactase persistence (LP) is an autosomal dominant trait enabling the continued production of the enzyme lactase throughout adult life. The 213,910*T allele ranges frequency from 6%–36% in eastern and southern Europe, 56%– 67% in Central and western Europe, to 73%–95% in the British Isles and Scandinavia [7,8] while LP ranges in frequency from 15%–54% in eastern and southern Europe, 62%–86% in Central and western Europe, to 89%–96% in the British Isles and Scandinavia [9]. This makes the 213,910*T allele a good candidate for predicting LP in Europe. Genotype/phenotype frequency comparisons have shown that the 213,910*T allele cannot account for LP frequencies in most African [3] and Middle
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