Human Genetics: Lactase Persistence in a Battlefield

  title={Human Genetics: Lactase Persistence in a Battlefield},
  author={Lehti Saag},
  journal={Current Biology},
  • Lehti Saag
  • Published 2 November 2020
  • Biology
  • Current Biology

Recent advances in understanding the adaptive evolution of metabolic genes and traits

  • Shuang YangK. Ye
  • Biology
    Current opinion in clinical nutrition and metabolic care
  • 2021
This review summarizes the recent advances in understanding the adaptive evolution of metabolic genes and traits, providing insights into gene-diet interactions in human evolution and health, and identifies novel cases of thrifty genes.



Genetics of lactase persistence and lactose intolerance.

A putative causal nucleotide change has been identified and occurs on the background of a very extended haplotype that is frequent in Northern Europeans, where lactase persistence is frequent.

A worldwide correlation of lactase persistence phenotype and genotypes

Lactase 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, and it is suggested that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactases persistence.

Genetic signatures of strong recent positive selection at the lactase gene.

It is estimated 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 the authors observe are among the strongest yet seen for any gene in the genome.

FADS1 and the Timing of Human Adaptation to Agriculture

The analysis shows that selection at the FADS locus was not tightly linked to the initial introduction of agriculture and the Neolithic transition, and suggests that the strongest signals of recent human adaptation in Europe did not coincide with theNeolithic transition but with more recent changes in environment, diet or efficiency of selection due to increases in effective population size.

Population genomics of Bronze Age Eurasia

It is shown that the Bronze Age was a highly dynamic period involving large-scale population migrations and replacements, responsible for shaping major parts of present-day demographic structure in both Europe and Asia.

Genome-wide patterns of selection in 230 ancient Eurasians

A genome-wide scan for selection using ancient DNA is reported, capitalizing on the largest ancient DNA data set yet assembled: 230 West Eurasians who lived between 6500 and 300 bc, including 163 with newly reported data.

Kinship, acquired and inherited status, and population structure at the Early Bronze Age Mokrin necropolis in northern Serbia

The Mokrin sample resembles a genetically unstructured population, suggesting that the community’s social hierarchies were not accompanied by strict marriage barriers and that sons had the possibility to acquire status during their lifetimes.

The genetic prehistory of the Baltic Sea region

While the series of events that shaped the transition between foraging societies and food producers are well described for Central and Southern Europe, genetic evidence from Northern Europe