ArticleScientific reports2018
Differences in DNA Methylation and Functional Expression in Lactase Persistent and Non-persistent Individuals.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 44 citations in OpenAlex.
- The molecular basis of lactase persistence: Linking genetics and epigenetics.Annals of human genetics · 2025Review
- Neanderthal adaptive introgression shapedProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Cow's Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management.Nutrients · 2024Review
- Genetic and cultural adaptations underlie the establishment of dairy pastoralism in the Tibetan Plateau.BMC biology · 2023Article
- Genome-wide DNA methylation landscape of four Chinese populations and epigenetic variation linked to Tibetan high-altitude adaptation.Science China. Life sciences · 2023Article
- Advances in Low-Lactose/Lactose-Free Dairy Products and Their Production.Foods (Basel, Switzerland) · 2023Review
- Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management.Nutrients · 2021Review
- Article
- Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.Nutrients · 2020Review
- Review
- Advances in Nutritional Epigenetics-A Fresh Perspective for an Old Idea. Lessons Learned, Limitations, and Future Directions.Epigenetics insights · 2020Article
- Association of the Lactase Persistence Haplotype Block With Disease Risk in Populations of European Descent.Frontiers in genetics · 2020Article
- The Importance of Lactose in the Human Diet: Outcomes of a Mexican Consensus Meeting.Nutrients · 2019Article
- Lactose digestion in humans: intestinal lactase appears to be constitutive whereas the colonic microbiome is adaptable.The American journal of clinical nutrition · 2019Review
- Cyclooxygenase-2 up-regulates hepatic somatostatin receptor 2 expression.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In humans the expression of lactase changes during post-natal development, leading to phenotypes known as lactase persistence and non-persistence. Polymorphisms within the lactase gene (LCT) enhancer, in particular the -13910C > T, but also others, are linked to these phenotypes. We were interested in identifying dynamic mediators of LCT regulation, beyond the genotype at -13910C > T. To this end, we investigated two levels of lactase regulation in human intestinal samples obtained from New England children and adolescents of mixed European ancestry: differential expression of transcriptional regulators of LCT, and variations in DNA methylation, and their relation to phenotype. Variations in expression of CDX2, POU2F1, GATA4, GATA6, and HNF1α did not correlate with phenotype. However, an epigenome-wide approach using the Illumina Infinium HM450 bead chip identified a differentially methylated position in the LCT promoter where methylation levels are associated with the genotype at -13910C > T, the persistence/non-persistence phenotype and lactase enzymatic activity. DNA methylation levels at this promoter site and CpGs in the LCT enhancer are associated with genotype. Indeed, taken together they have a higher power to predict lactase phenotypes than the genotype alone.
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