A worldwide correlation of lactase persistence phenotype and genotypes

@article{Itan2009AWC,
  title={A worldwide correlation of lactase persistence phenotype and genotypes},
  author={Yuval Itan and Bryony Leigh Jones and Catherine J. E. Ingram and Dallas M. Swallow and Mark George Thomas},
  journal={BMC Evolutionary Biology},
  year={2009},
  volume={10},
  pages={36 - 36}
}
BackgroundThe 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. [] Key MethodResultsWe 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.
Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas
TLDR
It is found that the –13910∗T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources, suggesting that general dietary guidelines deserve further evaluation across the continent.
Population Genetics of Lactase Persistence and Lactose Intolerance
TLDR
The phenotypic polymorphism and the evidence that the genetic trait involves regulation of expression of the lactase gene and is caused by multiple independent mutations that have reached high frequencies in different populations, because of the benefits of drinking milk are described.
Genetic diversity of lactase persistence in East African populations
TLDR
It is shown that with the exception of Copts and Nilotic populations who are fully lactose non-persistent, the majority of populations of East Africa show at least partly lactose persistence, with both ethnic and socio-economic aspects playing an important role in the distribution of genetic variants.
On the Evolution of Lactase Persistence in Humans.
Lactase persistence-the ability of adults to digest the lactose in milk-varies widely in frequency across human populations. This trait represents an adaptation to the domestication of dairying
The Onset of Lactase Persistence in Europe
TLDR
Various studies, from archaeology to population genetics, that have shed some light on the evolution of LP in Europe are discussed, suggesting that LP arose after dairying practices had developed.
Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies
TLDR
Two online interactive resources are created, which constitute an upgrade over previously published static world maps, and allow users a personalized data exploration, while at the same time accessing complete reports by population or ethnicity.
Frequency of lactase persistence genotype in a healthy Polish population
TLDR
Allele frequencies obtained are in agreement with results from other countries and confirm the unique pattern of distribution of the LCT-13910C>T genotype in Europe.
The genetic variation of lactase persistence alleles in northeast Africa
TLDR
A 316bp region involved in regulating the expression of the LCT gene on chromosome 2 is sequenced, which encompasses five polymorphisms that have been associated with LP in Sudanese and South Sudanese populations, resulting in one of the greatest frequencies of LP-variants among all populations across the world.
The evolution of lactase persistence
TLDR
An overview of the evolutionary history of lactase persistence is presented by focusing on the predictions of the culture-historical hypothesis, including the correlation between lactases persistence and pastoralism, the age of lact enzyme persistence mutations and molecular evidences for natural selection.
...
...

References

SHOWING 1-10 OF 77 REFERENCES
The evolutionary genetics of lactase persistence in Africa and the Middle East
TLDR
The occurrence of only one -13910*T carrier out of 45 lactase persistent people from a cohort of phenotyped Sudanese individuals provided confirmation that the allele is not causal worldwide, and the cluster of lactase persistence associated alleles within a single regulatory element implies that they are causal.
A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
TLDR
A cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence, and reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lact enzyme persistence status, at least for people with non-European ancestry.
The Origins of Lactase Persistence in Europe
TLDR
It is inferred 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.
The evolution of the lactase persistence phenotype
TLDR
Variation in and around the lactase gene is examined to explore the possible role of natural selection in explaining modern frequencies of lactase persistence and a series of single nucleotide polymorphisms in the vicinity of the lact enzyme gene have alleles known to associate with lactases persistence in Northern Europe.
Lactose digestion and the evolutionary genetics of lactase persistence
TLDR
Access is provided to a database of worldwide distributions of lactase persistence and of the C-13910*T allele, as well as reviewing lactase molecular and population genetics and the role of selection in determining present day distributions of the lactases persistence phenotype.
Absence of the lactase-persistence-associated allele in early Neolithic Europeans
TLDR
A stepwise strategy for obtaining reliable nuclear ancient DNA from ancient skeletons is developed, which obtained high-confidence LP-associated genotypes from eight Neolithic and one Mesolithic human remains, using a range of strict criteria for ancient DNA work.
Genetics of Lactase Persistence and Lactose Intolerance
TLDR
A putative causal nucleotide change has been identified and occurs on the background of a very extended haplotype that is frequent in Northern Europeans, where lactase persistence is frequent and does not explain all the variation in lactase expression.
Convergent adaptation of human lactase persistence in Africa and Europe
TLDR
A genotype-phenotype association study in Tanzanians, Kenyans and Sudanese and identified three SNPs that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro, providing a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits.
Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group
TLDR
A cohort of 107 milk-drinking Somali camel-herders from Ethiopia is examined, showing that increased diversity can accompany selection, and contrasts with the well-documented observation that positive selection decreases diversity by driving up the frequency of a single advantageous allele.
Impact of Selection and Demography on the Diffusion of Lactase Persistence
TLDR
The results show that gene-culture coevolution is a likely hypothesis in Africa as high LCT*P frequencies are preferentially found in pastoral populations and selection pressure on lactase persistence has been very high in the North-western part of the continent.
...
...