Lactose Nutrition and Natural Selection

Flatz, G.; Rotthauwe, H. W.

doi:10.1016/s0140-6736(73)93267-4

Cited by 128 publications

(67 citation statements)

References 18 publications

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“…10 The opposing 'reverse cause hypothesis', states that human populations were already differentiated with regard to lactase persistence frequency before the development of dairying, and that the presence of lactase persistence determined the adoption of milk production and consumption practices. 12 In Northern Europe, the advantage of the calcium assimilation hypothesis is likely to be the cause of the high lactase persistence at this latitude, 13 but in Southern Europe the presence of the À13910T allele displays a large variation between present populations. 2 The Iberian Peninsula represents one of the end points of Neolithic migration.…”

Section: Introductionmentioning

confidence: 99%

Low prevalence of lactase persistence in Neolithic South-West Europe

et al. 2012

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The ability of humans to digest the milk component lactose after weaning requires persistent production of the lactoseconverting enzyme lactase. Genetic variation in the promoter of the lactase gene (LCT) is known to be associated with lactase production and is therefore a genetic determinant for either lactase deficiency or lactase persistence during adulthood. Large differences in this genetic trait exist between populations in Africa and the Middle-East on the one hand, and European populations on the other; this is thought to be due to evolutionary pressures exerted by consumption of dairy products in Neolithic populations in Europe. In this study, we have investigated lactase persistence of 26 out of 46 individuals from Late Neolithic through analysis of ancient South-West European DNA samples, obtained from two burials in the Basque Country originating from 5000 to 4500 YBP. This investigation revealed that these populations had an average frequency of lactase persistence of 27%, much lower than in the modern Basque population, which is compatible with the concept that Neolithic and post-Neolithic evolutionary pressures by cattle domestication and consumption of dairy products led to high lactase persistence in Southern European populations. Given the heterogeneity in the frequency of the lactase persistence allele in ancient Europe, we suggest that in Southern Europe the selective advantage of lactose assimilation in adulthood most likely took place from standing population variation, after cattle domestication, at a post-Neolithic time when fresh milk consumption was already fully adopted as a consequence of a cultural influence.

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Section: Introductionmentioning

confidence: 99%

Low prevalence of lactase persistence in Neolithic South-West Europe

et al. 2012

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“…This process is called 'allele surfing' and is thought to have occurred with the spread of farmers in Europe [65]. Furthermore, selection has-to an extentshaped the distribution of LP [14,36,37], although it is unclear whether this selection was continuous or episodic, and whether it varied by latitude [50] or ecological zones [53]. It is therefore clear that to obtain a more complete picture of the coevolution of LP and dairying in Europe it is necessary to integrate cultural, demographic and selective processes.…”

Section: Lactase Persistence the Neolithic Transition And The Histormentioning

confidence: 99%

“…While the selection coefficients explored in Aoki's model were assumed to be constant, in a recent study, Gerbault et al [18] modelled a geographical structuring of selection pressure by latitude, thereby testing explicitly the calcium assimilation hypothesis [50]. The evolution of a dominant allele associated with LP was simulated in four Near-Eastern and 22 European populations since the Neolithic transition in their respective regions, according to two demographic models: cultural diffusion and demic diffusion [63].…”

Section: (B) Spatial Variation In Selection Intensitymentioning

confidence: 99%

Evolution of lactase persistence: an example of human niche construction

Gerbault

Liebert

Itan

et al. 2011

Phil. Trans. R. Soc. B

379

272

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Niche construction is the process by which organisms construct important components of their local environment in ways that introduce novel selection pressures. Lactase persistence is one of the clearest examples of niche construction in humans. Lactase is the enzyme responsible for the digestion of the milk sugar lactose and its production decreases after the weaning phase in most mammals, including most humans. Some humans, however, continue to produce lactase throughout adulthood, a trait known as lactase persistence. In European populations, a single mutation (213910*T ) explains the distribution of the phenotype, whereas several mutations are associated with it in Africa and the Middle East. Current estimates for the age of lactase persistence-associated alleles bracket those for the origins of animal domestication and the culturally transmitted practice of dairying. We report new data on the distribution of 213910*T and summarize genetic studies on the diversity of lactase persistence worldwide. We review relevant archaeological data and describe three simulation studies that have shed light on the evolution of this trait in Europe. These studies illustrate how genetic and archaeological information can be integrated to bring new insights to the origins and spread of lactase persistence. Finally, we discuss possible improvements to these models.

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“…Indeed, it has been shown that diversity in milk protein genetic variants among cattle is distributed across Europe in parallel to both current day lactase persistence and the Neolithic distribution of European cattle pastoralist societies. 43 The two current main hypotheses regarding the origin of lactase persistence can be summarised as (1) the 'culture historical' hypothesis, 44 -46 which concentrates on the general nutritional (and survival) advantage of milk consumption in populations that have milk availability, do not process milk into low-lactose foods such as cheese and are subject to other (non-dairy) dietary stresses and (2) the calcium absorption hypothesis, 5,47 which considers the ability to use milk as of particular importance for highlatitude populations with low ultraviolet light exposure who are thus subject to potential vitamin D deficiency and poor calcium absorption and for whom the calcium absorption-stimulating effect of lactose would increase fitness. There are other less formally articulated hypotheses that can be identified in the literature, which are as follows: 5,48,49 (1) a reduced diarrhoeal disease mortality hypothesis that considers that, in populations that have become high consumers of milk, this consumption will increase risk of diarrhoeal disease in individuals who are not lactase persistent and thus select for lactase persistence; (2) an auxiliary water/electrolyte hypothesis specific to the aberrant high-lactase persistence populations in Africa that considers that, in arid regions with animal husbandry practices allowing access to milk, the ability to use milk has a selective advantage through the provision of water and electrolytes; (3) the enhanced fertility by early weaning hypothesis that postulates that lactase persistence leads to earlier weaning and that earlier cessation of breastfeeding reduces the infertile period following each birth; and finally, (4) that the gradients observed could be due to simple genetic drift.…”

Section: G Davey Smith Et Almentioning

confidence: 99%

Lactase persistence-related genetic variant: population substructure and health outcomes

et al. 2008

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Lactase persistence is an autosomal-dominant trait that is common in European-derived populations. A basic tendency for lactase persistence to increase from the southeast to the northwest across European populations has been noted, but such trends within countries have not been extensively studied. We genotyped the C/T À13910 variant (rs4988235) that constitutes the putatively causal allele for lactase persistence (T allele representing persistence) in a general population sample of 3344 women aged 60-79 years from 23 towns across Britain. We found an overall frequency of 0.253 for the C (lactase nonpersistence) allele, but with considerable gradients of decreasing frequency from the south to the north and from the east to the west of Britain for this allele. Daily sunlight was positively related to C (nonpersistence) allele prevalence. However, sunlight exposure and latitude are strongly correlated, and it was not possible to identify which is the primary factor statistically underlying the distribution of lactase persistence. The C/T À13910 variant (rs4988235) was not related to drinking milk or bone health (although drinking milk itself was protective of bone health), and was essentially unrelated to a wide range of other lifestyle, health and demographic characteristics. One exception was general health being rated as being poor or fair, for which there was an odds ratio of 1.38 (1.04, 1.84) for women homozygous for the C allele; on adjustment for latitude and longitude of place of birth, this attenuated to 1.19 (0.87, 1.64). The lactase persistence variant could contribute to the examination of data for the existence of, and then statistical control for, population substructure in genetic association studies.

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Lactose Nutrition and Natural Selection

Cited by 128 publications

References 18 publications

Low prevalence of lactase persistence in Neolithic South-West Europe

Low prevalence of lactase persistence in Neolithic South-West Europe

Evolution of lactase persistence: an example of human niche construction

Lactase persistence-related genetic variant: population substructure and health outcomes

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