ArticleHuman genetics2011
The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Association of lactase persistence genotype with milk consumption, obesity and blood pressure: a Mendelian randomization study in the 1982 Pelotas (Brazil) Birth Cohort, with a systematic review and meta-analysis.International journal of epidemiology · 2016Pooled it
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- The molecular basis of lactase persistence: Linking genetics and epigenetics.Annals of human genetics · 2025Review
- Lactase persistence in the Jordanian population: Potential effects of the Arabian Peninsula and Sahara's aridification.Heliyon · 2024Article
- Genetic and cultural adaptations underlie the establishment of dairy pastoralism in the Tibetan Plateau.BMC biology · 2023Article
- Advances in Low-Lactose/Lactose-Free Dairy Products and Their Production.Foods (Basel, Switzerland) · 2023Review
- Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.Nutrients · 2020Review
- Lactose Intolerance, Dairy Avoidance, and Treatment Options.Nutrients · 2018Review
- bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity of pigmentation in Drosophila melanogaster.PLoS genetics · 2018Article
- World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.Human genetics · 2017Article
- Transcriptional heterogeneity in the lactase gene within cell-type is linked to the epigenome.Scientific reports · 2017Article
- In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence.Annals of human genetics · 2016Article
- Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change.Nature structural & molecular biology · 2016Article
- Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.Nature structural & molecular biology · 2016Article
- The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers.Nutrients · 2015Review
- Diversity of lactase persistence in African milk drinkers.Human genetics · 2015Article
- New insights into the history of the C-14010 lactase persistence variant in Eastern and Southern Africa.American journal of physical anthropology · 2015Article
- Adaptations to local environments in modern human populations.Current opinion in genetics & development · 2014Review
- Tracing pastoralist migrations to southern Africa with lactase persistence alleles.Current biology : CB · 2014Article
- Genetic origins of lactase persistence and the spread of pastoralism in Africa.American journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In most people worldwide intestinal lactase expression declines in childhood. In many others, particularly in Europeans, lactase expression persists into adult life. The lactase persistence phenotype is in Europe associated with the -13910*T single nucleotide variant located 13,910 bp upstream the lactase gene in an enhancer region that affects lactase promoter activity. This variant falls in an Oct-1 binding site and shows greater Oct-1 binding than the ancestral variant and increases enhancer activity. Several other variants have been identified very close to the -13910 position, which are associated with lactase persistence in the Middle East and Africa. One of them, the -14010*C, is associated with lactase persistence in Africa. Here we show by deletion analysis that the -14010 position is located in a 144 bp region that reduces the enhancer activity. In transfections the -14010*C allele shows a stronger enhancer effect than the ancestral -4010*G allele. Binding sites for Oct-1 and HNF1α surrounding the -14010 position were identified by gel shift assays, which indicated that -14010*C has greater binding affinity to Oct-1 than -14010*G.
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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.