ArticleAmerican journal of human genetics2004
Genetic signatures of strong recent positive selection at the lactase gene.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 466 papers, 5 of them syntheses that pooled it.
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Who cites it
466 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.Communications biology · 2022Pooled it
- Genetically Predicted Milk Intake Increased Femoral Neck Bone Mineral Density in Women But Not in Men.Frontiers in endocrinology · 2022Pooled it
- Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.Nature communications · 2018Pooled it
- Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent.Molecular nutrition & food research · 2018Pooled it
- Associations of the MCM6-rs3754686 proxy for milk intake in Mediterranean and American populations with cardiovascular biomarkers, disease and mortality: Mendelian randomization.Scientific reports · 2016Pooled it
- Circulating thrifty microRNA is related to insulin sensitivity, adiposity, and energy metabolism in adults with overweight and obesity: the POUNDS Lost trial.The American journal of clinical nutrition · 2023Trial
- Trial
- Gut-microbiome-related LCT genotype and 2-year changes in body composition and fat distribution: the POUNDS Lost Trial.International journal of obesity (2005) · 2018Trial
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar Desert.HGG advances · 2026Article
- Interactive exploration of biobank-scale ancestral recombination graphs with Lorax.Bioinformatics (Oxford, England) · 2026Article
- Recovery and analysis of ancient DNA: challenges, methods, and applications in forensic and archaeological science.Journal, genetic engineering & biotechnology · 2026Article
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- A century of suicide: Insights from long-term data in the United States.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Quantifying direct genetic signal captured by principal component adjustment.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Insights into human adaptation from ancient DNA.Nature genetics · 2026Review
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- The persistence and loss of hard selective sweeps amid admixture in ancient Eurasians.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Coalescence and translation: A language model for population genetics.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Identifying Adaptive Footprints in the Presence of Demographic Uncertainty.Genome biology and evolution · 2026Article
406 more citing papers are in PubMed but not listed here.
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9 authors.
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No grant is acknowledged in the PubMed record.
Abstract
In most human populations, the ability to digest lactose contained in milk usually disappears in childhood, but in European-derived populations, lactase activity frequently persists into adulthood (Scrimshaw and Murray 1988). It has been suggested (Cavalli-Sforza 1973; Hollox et al. 2001; Enattah et al. 2002; Poulter et al. 2003) that a selective advantage based on additional nutrition from dairy explains these genetically determined population differences (Simoons 1970; Kretchmer 1971; Scrimshaw and Murray 1988; Enattah et al. 2002), but formal population-genetics-based evidence of selection has not yet been provided. To assess the population-genetics evidence for selection, we typed 101 single-nucleotide polymorphisms covering 3.2 Mb around the lactase gene. In northern European-derived populations, two alleles that are tightly associated with lactase persistence (Enattah et al. 2002) uniquely mark a common (~77%) haplotype that extends largely undisrupted for >1 Mb. We provide two new lines of genetic evidence that this long, common haplotype arose rapidly due to recent selection: (1) by use of the traditional F(ST) measure and a novel test based on p(excess), we demonstrate large frequency differences among populations for the persistence-associated markers and for flanking markers throughout the haplotype, and (2) we show that the haplotype is unusually long, given its high frequency--a hallmark of recent selection. We estimate that strong selection occurred within the past 5,000-10,000 years, consistent with an advantage to lactase persistence in the setting of dairy farming; the signals of selection we observe are among the strongest yet seen for any gene in the genome.
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