ArticleHuman genetics2007
A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Development of a novel SNP assay to detect lactase persistence associated genetic variants.Molecular biology reports · 2021Trial
- Early Neolithic genomes suggest a local origin for millet farmers in East Asia.Science advances · 2026Article
- 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
- The molecular basis of lactase persistence: Linking genetics and epigenetics.Annals of human genetics · 2025Review
- Polaris: Polarization of ancestral and derived polymorphic alleles for inferences of extended haplotype homozygosity in human populations.Bioinformatics (Oxford, England) · 2025Article
- Neanderthal adaptive introgression shapedProceedings of the National Academy of Sciences of the United States of America · 2025Article
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- AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.Bioinformatics (Oxford, England) · 2024Article
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- Lactase persistence in the Jordanian population: Potential effects of the Arabian Peninsula and Sahara's aridification.Heliyon · 2024Article
- In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene.Scientific reports · 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
- Human genetic history on the Tibetan Plateau in the past 5100 years.Science advances · 2023Article
- Article
- Evaluating the Robustness of Biomarkers of Dairy Food Intake in a Free-Living Population Using Single- and Multi-Marker Approaches.Metabolites · 2021Article
- Article
- Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management.Nutrients · 2021Review
30 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Persistence or non-persistence of lactase expression into adult life is a polymorphic trait that has been attributed to a single nucleotide polymorphism (C-13910T) in an enhancer element 13.9 kb upstream of the lactase gene (LCT). The -13910*T allele occurs at very high frequency in northern Europeans as part of a very long haplotype (known as A), and promotes binding of the transcription factor Oct-1. However, -13910*T is at very low frequency in many African milk drinking pastoralist groups where lactase persistence phenotype has been reported at high frequency. We report here for the first time, a cohort study of lactose digester and non-digester Sudanese volunteers and show there is no association of -13910*T or the A haplotype with lactase persistence. We support this finding with new genotype/phenotype frequency comparisons in pastoralist groups of eastern African and Middle Eastern origin. Resequencing revealed three new SNPs in close proximity to -13910*T, two of which are within the Oct-1 binding site. The most frequent of these (-13915*G) is associated with lactose tolerance in the cohort study, providing evidence for a cis-acting effect. Despite its location, -13915*G abolishes, rather than enhances Oct-1 binding, indicating that this particular interaction is unlikely to be involved in lactase persistence. This study reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lactase persistence status, at least for people with non-European ancestry.
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