ArticleBMC evolutionary biology2010
A worldwide correlation of lactase persistence phenotype and genotypes.
Article in BMC evolutionary biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 3 of them syntheses that pooled it.
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Who cites it
110 citing papers in PubMed, 3 syntheses or guidelines pooled it, 347 citations in OpenAlex.
- Association of Milk and Dairy Intake with Anxiety and Depressive Symptoms in Children and Adolescents: A Systematic Review and Meta-Analysis.Nutrients · 2026Pooled it
- The Effects of Colostrum Bovinum Supplementation on Human Body Fat Content and/or Blood Lipid Profile: A Systematic Review of Clinical Trials.Nutrients · 2026Pooled it
- Dairy Intake and Acne Vulgaris: A Systematic Review and Meta-Analysis of 78,529 Children, Adolescents, and Young Adults.Nutrients · 2018Pooled it
- Evaluation of breath, plasma, and urinary markers of lactose malabsorption to diagnose lactase non-persistence following lactose or milk ingestion.BMC gastroenterology · 2020Trial
- Impact of short-chain galactooligosaccharides on the gut microbiome of lactose-intolerant individuals.Proceedings of the National Academy of Sciences of the United States of America · 2017Trial
- Gut microbiomes of tribal communities in India vary with dairy and grain consumption.Gut microbes · 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
- Linking diet, gut microbiota, and metabolites to Parkinson's disease risk: a shotgun metagenomic comparison of Japanese and Taiwanese cohorts.Journal of neural transmission (Vienna, Austria : 1996) · 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
- Genomics of host-microbiome interactions in humans.Nature reviews. Genetics · 2026Review
- The Japanese gut microbiome: ecology, uniqueness, and impact on health and disease.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2026Review
- Precision nutrition across climates: decoding diet, tradition, and genomic adaptations from South Asia to the Arctic.Frontiers in nutrition · 2025Review
- Lactase persistence in the Jordanian population: Potential effects of the Arabian Peninsula and Sahara's aridification.Heliyon · 2024Article
- Healthy Effects of Milk and Dairy Product Consumption in the Mediterranean Area and Japan.Endocrine, metabolic & immune disorders drug targets · 2024Review
- A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study.International journal of molecular sciences · 2023Article
- Long-term trends in human body size track regional variation in subsistence transitions and growth acceleration linked to dairying.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.iScience · 2023Review
- Loose ends in the differential diagnosis of IBS-like symptoms.Frontiers in medicine · 2023Article
- Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. Lactase persistence is common in people of European ancestry as well as some African, Middle Eastern and Southern Asian groups, but is rare or absent elsewhere in the world. The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. However, it is highly unlikely that all lactase persistence-associated variants are known. Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency.
resultsWe used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions.
conclusionLactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. We suggest that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactase persistence.
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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.