ArticleJournal of medical genetics2007
The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 101 citations in OpenAlex.
- Community based countrywide analysis of lactase persistence related genetic variants and their correlation with digestive symptoms in Libya.PLOS global public health · 2026Article
- When should adaptation arise from a polygenic response versus few large effect changes?bioRxiv : the preprint server for biology · 2025Article
- The genomic history of the Middle East.Cell · 2021Article
- Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management.Nutrients · 2021Review
- Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.Nutrients · 2020Review
- Adaptation to milking agropastoralism in Chilean goat herders and nutritional benefit of lactase persistence.Annals of human genetics · 2019Article
- Differences in DNA Methylation and Functional Expression in Lactase Persistent and Non-persistent Individuals.Scientific reports · 2018Article
- Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations.Genes & nutrition · 2017Article
- Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change.Nature structural & molecular biology · 2016Article
- Genetic diversity of lactase persistence in East African populations.BMC research notes · 2016Article
- Review
- Adult lactose digestion status and effects on disease.Canadian journal of gastroenterology & hepatology · 2015Review
- Early back-to-Africa migration into the Horn of Africa.PLoS genetics · 2014Article
- Genetic origins of lactase persistence and the spread of pastoralism in Africa.American journal of human genetics · 2014Article
- Recent human adaptation: genomic approaches, interpretation and insights.Nature reviews. Genetics · 2013Review
- Omics technologies and the study of human ageing.Nature reviews. Genetics · 2013Review
- The Phenotype/Genotype Correlation of Lactase Persistence among Omani Adults.Oman medical journal · 2013Article
- Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.Genes & nutrition · 2013Article
- Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment.United European gastroenterology journal · 2013Article
- Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children.Genes & nutrition · 2013Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prevalence of lactase persistence is high in Saudi Arabia.
objectiveTo identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia.
methodsWe sequenced DNA from 432 anonymous neonatal blood donors from five different regions of Saudi Arabia to cover the 400 bp region surrounding the previously identified lactase persistence/non-persistence variant C/T-13910 residing in intron 13 of the MCM6 gene.
resultsTwo anonymous blood donors carried the C/T-13910 genotype. One variant, T/G -13915, residing 5 bp upstream of the C/T-13910 variant, was present in 332 of 432 (76.9%) of the neonatal samples, compatible with previous prevalence figures of lactase persistence in urban Saudi populations. Determination of disaccharidase activities in 25 intestinal biopsy samples showed a highly significant correlation between lactase activity and the T/G-13915 genotypes (p<0.001; Fisher exact test) as well as between the L:S ratio and the aforementioned genotypes (p<0.001; Fisher exact test).
conclusionThe T/G-13915 variant is the founder mutation of lactase persistence in an urban Saudi population. The results obtained here have implications for genetic testing of adult-type hypolactasia and to analysis of human evolution, the origin of cattle domestication and migrations of the populations in the Arabian peninsula.
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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.