ArticleHuman genetics2009
Lactose digestion and the evolutionary genetics of lactase persistence.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 3 of them syntheses that pooled it.
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Who cites it
136 citing papers in PubMed, 3 syntheses or guidelines pooled it, 496 citations in OpenAlex.
- Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials.Nutrients · 2020Pooled it
- Dairy consumption, systolic blood pressure, and risk of hypertension: Mendelian randomization study.BMJ (Clinical research ed.) · 2017Pooled it
- Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations.International journal of immunogenetics · 2012Guideline
- Trial
- Palaeoproteomic and genetic insights into millennial-scale dairy consumption in Armenia.iScience · 2026Article
- Limited Public Health Utility of LCT Genotyping for Lactose Intolerance Screening in Adolescents: A Cross-Sectional Study from Türkiye.Journal of clinical practice and research · 2026Article
- Observational
- Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population.Journal of applied genetics · 2026Article
- Distinct Clinical Phenotypes in Lactase Nonpersistence: Symptomatic, Asymptomatic, and Gassy-Asymptomatic.The American journal of gastroenterology · 2026Article
- Detecting Positive Selection by Modeling Structure Within Images of Genetic Variation.Genome biology and evolution · 2026Article
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- Meta-analysis of lactase phenotypes on obesity, metabolic syndrome and milk consumption.BMJ nutrition, prevention & health · 2026Article
- Characterization of Plant-Based Milk-Derived "Fujiharu Butter": Comparison With Butter and Butter-Like Substitutes.Journal of food science · 2026Article
- Selection scans and downstream analysis with selscan.Human population genetics and genomics · 2026Article
- The ethnicity and gut microbiota hypothesis: analyzing multifactorial interactions and their health implications.Frontiers in microbiology · 2026Review
- Revisiting the Evolution of Lactase Persistence: Insights from South Asian Genomes.bioRxiv : the preprint server for biology · 2025Article
- Modulation of lactose synthesis and orexinergic-glucose pathway by sex steroid hormones.Physiological reports · 2025Review
- Fast and Memory-Efficient Dynamic Programming Approach for Large-Scale EHH-Based Selection Scans.Molecular biology and evolution · 2025Article
- Selection scans and downstream analysis with selscan.bioRxiv : the preprint server for biology · 2025Article
- Fast and Memory-Efficient Dynamic Programming Approach for Large-Scale EHH-Based Selection Scans.bioRxiv : the preprint server for biology · 2025Article
76 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 1 institution in 2 countries.
Funding
Abstract
It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically determined trait differs in frequency worldwide and is due to cis-acting polymorphism of regulation of lactase gene expression. A single nucleotide polymorphism located 13.9 kb upstream from the lactase gene (C-13910 > T) was proposed to be the cause, and the -13910*T allele, which is widespread in Europe was found to be located on a very extended haplotype of 500 kb or more. The long region of haplotype conservation reflects a recent origin, and this, together with high frequencies, is evidence of positive selection, but also means that -13910*T might be an associated marker, rather than being causal of lactase persistence itself. Doubt about function was increased when it was shown that the original SNP did not account for lactase persistence in most African populations. However, the recent discovery that there are several other SNPs associated with lactase persistence in close proximity (within 100 bp), and that they all reside in a piece of sequence that has enhancer function in vitro, does suggest that they may each be functional, and their occurrence on different haplotype backgrounds shows that several independent mutations led to lactase persistence. Here we provide access 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 lactase persistence phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.