The Origins of Lactase Persistence in Europe

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

Long-term trends in human body size track regional variation in subsistence transitions and growth acceleration linked to dairying

Evidence for a reduction in stature between Mesolithic foragers and Neolithic farmers has been interpreted as reflective of declines in health, however, our current understanding of this trend fails to account for the complexity of cultural and dietary transitions or the possible causes of phenotypic change. The agricultural transition was extended in primary centers of domestication and abrupt in regions characterized by demic diffusion. In regions such as Northern Europe where foreign domesticates were difficult to establish, there is strong evidence for natural selection for lactase persistence in relation to dairying. We employ broad-scale analyses of diachronic variation in stature and body mass in the Levant, Europe, the Nile Valley, South Asia, and China, to test three hypotheses about the timing of subsistence shifts and human body size, that: 1) the adoption of agriculture led to a decrease in stature, 2) there were different trajectories in regions of in situ domestication or cultural diffusion of agriculture; and 3) increases in stature and body mass are observed in regions with evidence for selection for lactase persistence. Our results demonstrate that 1) decreases in stature preceded the origins of agriculture in some regions; 2) the Levant and China, regions of in situ domestication of species and an extended period of mixed foraging and agricultural subsistence, had stable stature and body mass over time; and 3) stature and body mass increases in Central and Northern Europe coincide with the timing of selective sweeps for lactase persistence, providing support for the "Lactase Growth Hypothesis.

A worldwide correlation of lactase persistence phenotype and genotypes

Background: The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. Lactase persistence is common in people of European ancestry as well as some African, Middle Eastern and Southern Asian groups, but is rare or absent elsewhere in the world. The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. However, it is highly unlikely that all lactase persistence-associated variants are known. Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency. Results: We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions. Conclusion: Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. We suggest that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactase persistence

The Role of Lactose Tolerance in Pre-Colonial Development

This paper establishes a link between natural selection since the Neolithic Revolution and economic conditions in the pre-colonial era. The ability to digest milk, or to be lactose tolerant, is conferred by a gene variant, which is unequally distributed across the Old World. Digesting milk conferred qualitative and quantitative advantages to early farmers's diets, which ultimately, led to differences in the carrying capacities of respective countries. It is shown through a number of specifications that country level variation in the frequency of the ability to consume milk is positively and significantly related to population densities in 1500 CE; specifically, a one standard deviation in- crease in the frequency of lactose tolerant individuals (24% points) is associated with roughly a 60% increase in pre-colonial population densities. This relationship remains while controlling for agricultural transition dates, other measures of genetic distance, and a wide array of environmental controls. Additionally, the basis for the relation- ship between dairying and population density is confirmed with the use of instrumental variables estimation.

The Conquest of Milk: The Rise of Lactase Persistence and the Fall of Scandinavian Hunter-Gatherers

Over half of the global human population suffers from lactase nonpersistence, a condition marked by losing the ability to digest lactose after infancy. However, a minority of the global population, primarily located in Central and Northern Europe, has a genetic mutation that results in lactase persistence, which is the continued ability to process lactose after infancy. This interdisciplinary analysis blends archaeology, cultural anthropology, evolutionary biology, and archaeogenetics to explore the origin and rise of lactase persistence in Europe and its contribution to the end of hunter-gatherer societies in Scandinavia. Furthermore, the paper uses gene-culture coevolutionary theory to argue that lactase persistence was introduced to Scandinavia by an outside culture and attempts to identify the geographical and cultural origin of the genetic mutation

Lactase persistence and milk consumption in Europe: an interdisciplinary approach involving genetics and archaeology

The ability to digest milk during adulthood (lactase persistence) is a genetically determined trait present only in humans. Its origin and diffusion are correlated with the development of pastoralism and the consumption of fresh milk. This work will present the genetic and archaeologi- cal data that allow the reconstruction of the co-evolutionary process between dairying culture and lactase persistence, as well as a discussion of the chronology and the way lactase persistence spread in Europe. Sposobnost presnavljanja mleka v odrasli dobi (laktazna persistenca) je genetsko pogojena značilnost, navzoča le pri ljudeh. Njen izvor in razširitev sta povezana z razvojem pastirstva in uživanjem svežega mleka. V članku predstavljamo genetske in arheološke podatke, ki nam omogočajo rekonstrukcijo koevolucijskih procesov med mlečno-gospodarskimi kulturami in laktazno persistenco, poleg tega pa komentiramo kronologijo in način, kako se je laktazna persistenca širila v Evropo

Immediate replacement of fishing with dairying by the earliest farmers of the NE Atlantic archipelagos

The appearance of farming, from its inception in the Near East around 12 000 years ago, finally reached the northwestern extremes of Europe by the fourth millennium BC or shortly thereafter. Various models have been invoked to explain the Neolithization of northern Europe; however, resolving these different scenarios has proved problematic due to poor faunal preservation and the lack of specificity achievable for commonly applied proxies. Here, we present new multi-proxy evidence, which qualitatively and quantitatively maps subsistence change in the northeast Atlantic archipelagos from the Late Mesolithic into the Neolithic and beyond. A model involving significant retention of hunter–gatherer–fisher influences was tested against one of the dominant adoptions of farming using a novel suite of lipid biomarkers, including dihydroxy fatty acids, ω-(o-alkylphenyl)alkanoic acids and stable carbon isotope signatures of individual fatty acids preserved in cooking vessels. These new findings, together with archaeozoological and human skeletal collagen bulk stable carbon isotope proxies, unequivocally confirm rejection of marine resources by early farmers coinciding with the adoption of intensive dairy farming. This pattern of Neolithization contrasts markedly to that occurring contemporaneously in the Baltic, suggesting that geographically distinct ecological and cultural influences dictated the evolution of subsistence practices at this critical phase of European prehistory

The evolution lactose tolerance in dairying populations

Among the biocultural innovations associated with the Neolithic, dairying and the evolution of lactose tolerance is the most studied. Expression of the enzyme lactase, which digests the milk sugar lactose, decreases after weaning in mammals, including most humans. However, some humans express lactase throughout adulthood—a trait known as lactase persistence (LP). Striking observations about LP evolution include: (i) a strong correlation between LP frequency and a history of herding and dairying; (ii) genetic patterns indicating LP-associated variants have increased in frequency through natural selection; (iii) two of these variants have been experimentally shown to affect lactase expression in adults; and (iv) archaeological and ancient DNA data indicate dairying pre-dated the rise of LP-associated variants. This chapter reviews the biology and archaeology of LP, examines some of the hypotheses formulated to explain its distribution, and outlines how simulation modelling has contributed to our understanding of its evolution