ArticleAmerican journal of human genetics2014
Genetic origins of lactase persistence and the spread of pastoralism in Africa.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.
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Who cites it
92 citing papers in PubMed, 222 citations in OpenAlex.
- Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation.Proceedings of the National Academy of Sciences of the United States of America · 2019Trial
- Distinct Clinical Phenotypes in Lactase Nonpersistence: Symptomatic, Asymptomatic, and Gassy-Asymptomatic.The American journal of gastroenterology · 2026Article
- Article
- Insights into human adaptation from ancient DNA.Nature genetics · 2026Review
- Community based countrywide analysis of lactase persistence related genetic variants and their correlation with digestive symptoms in Libya.PLOS global public health · 2026Article
- Revisiting the Evolution of Lactase Persistence: Insights from South Asian Genomes.bioRxiv : the preprint server for biology · 2025Article
- An ancient regulatory variant of ACSF3 influences the coevolution of increased human height and basal metabolic rate via metabolic homeostasis.Cell genomics · 2025Article
- Polaris: Polarization of ancestral and derived polymorphic alleles for inferences of extended haplotype homozygosity in human populations.Bioinformatics (Oxford, England) · 2025Article
- Precision nutrition across climates: decoding diet, tradition, and genomic adaptations from South Asia to the Arctic.Frontiers in nutrition · 2025Review
- AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.Bioinformatics (Oxford, England) · 2024Article
- Protective alleles and precision healthcare in crewed spaceflight.Nature communications · 2024Review
- Prebiotic Strategies to Manage Lactose Intolerance Symptoms.Nutrients · 2024Review
- kalis: a modern implementation of the Li & Stephens model for local ancestry inference in R.BMC bioinformatics · 2024Article
- TAS2R38 bitter taste perception in the Koṅkaṇī Sārasvata Brahmin population.Genes & genomics · 2023Article
- The name of the game: palaeoproteomics and radiocarbon dates further refine the presence and dispersal of caprines in eastern and southern Africa.Royal Society open science · 2023Article
- Favored Races in the Struggle for Life: Racism and the Speciation Concept.Cold Spring Harbor perspectives in biology · 2023Review
- Evolutionary Genetics and Admixture in African Populations.Genome biology and evolution · 2023Review
- Review
- Natural selection of immune and metabolic genes associated with health in two lowland Bolivian populations.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Signatures of Convergent Evolution and Natural Selection at the Alcohol Dehydrogenase Gene Region are Correlated with Agriculture in Ethnically Diverse Africans.Molecular biology and evolution · 2022Article
32 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 7 institutions in 7 countries.
Funding
Abstract
In humans, the ability to digest lactose, the sugar in milk, declines after weaning because of decreasing levels of the enzyme lactase-phlorizin hydrolase, encoded by LCT. However, some individuals maintain high enzyme amounts and are able to digest lactose into adulthood (i.e., they have the lactase-persistence [LP] trait). It is thought that selection has played a major role in maintaining this genetically determined phenotypic trait in different human populations that practice pastoralism. To identify variants associated with the LP trait and to study its evolutionary history in Africa, we sequenced MCM6 introns 9 and 13 and ~2 kb of the LCT promoter region in 819 individuals from 63 African populations and in 154 non-Africans from nine populations. We also genotyped four microsatellites in an ~198 kb region in a subset of 252 individuals to reconstruct the origin and spread of LP-associated variants in Africa. Additionally, we examined the association between LP and genetic variability at candidate regulatory regions in 513 individuals from eastern Africa. Our analyses confirmed the association between the LP trait and three common variants in intron 13 (C-14010, G-13907, and G-13915). Furthermore, we identified two additional LP-associated SNPs in intron 13 and the promoter region (G-12962 and T-956, respectively). Using neutrality tests based on the allele frequency spectrum and long-range linkage disequilibrium, we detected strong signatures of recent positive selection in eastern African populations and the Fulani from central Africa. In addition, haplotype analysis supported an eastern African origin of the C-14010 LP-associated mutation in southern Africa.
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