On the Evolution of Lactase Persistence in Humans

Annu Rev Genomics Hum Genet. 2017 Aug 31:18:297-319. doi: 10.1146/annurev-genom-091416-035340. Epub 2017 Apr 19.


Lactase persistence-the ability of adults to digest the lactose in milk-varies widely in frequency across human populations. This trait represents an adaptation to the domestication of dairying animals and the subsequent consumption of their milk. Five variants are currently known to underlie this phenotype, which is monogenic in Eurasia but mostly polygenic in Africa. Despite being a textbook example of regulatory convergent evolution and gene-culture coevolution, the story of lactase persistence is far from clear: Why are lactase persistence frequencies low in Central Asian herders but high in some African hunter-gatherers? Why was lactase persistence strongly selected for even though milk processing can reduce the amount of lactose? Are there other factors, outside of an advantage of caloric intake, that contributed to the selective pressure for lactase persistence? It is time to revisit what we know and still do not know about lactase persistence in humans.

Keywords: Neolithic; human evolution; lactase; milk; natural selection; pastoralism.

Publication types

  • Review

MeSH terms

  • Animals
  • Evolution, Molecular*
  • Gene Expression Regulation
  • Gene Frequency*
  • Genetics, Population
  • Humans
  • Intestines / enzymology*
  • Lactase / genetics*
  • Lactose / metabolism
  • Milk / metabolism
  • Polymorphism, Single Nucleotide*
  • Selection, Genetic


  • Lactase
  • Lactose