Leveraging Multiple Populations across Time Helps Define Accurate Models of Human Evolution: A Reanalysis of the Lactase Persistence Adaptation

Hum Biol. 2017 Jan;89(1):81-97. doi: 10.13110/humanbiology.89.1.05.


Access to a geographically diverse set of modern human samples from the present time and from ancient remains, combined with archaic hominin samples, provides an unprecedented level of resolution to study both human history and adaptation. The amount and quality of ancient human data continue to improve and enable tracking the trajectory of genetic variation over time. These data have the potential to help us redefine or generate new hypotheses of how human evolution occurred and to revise previous conjectures. In this article, we argue that leveraging all these data will help us better detail adaptive histories in humans. As a case in point, we focus on one of the most celebrated examples of human adaptation: the evolution of lactase persistence. We briefly review this dietary adaptation and argue that, effectively, the evolutionary history of lactase persistence is still not fully resolved. We propose that, by leveraging data from multiple populations across time and space, we will find evidence of a more nuanced history than just a simple selective sweep. We support our hypotheses with simulation results and make some cautionary notes regarding the use of haplotype-based summary statistics to estimate evolutionary parameters.

Keywords: adaptation; ancient dna; positive selection.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adaptation, Physiological / genetics*
  • Animals
  • DNA Primers
  • Diet
  • Evolution, Molecular*
  • Gene Frequency / genetics*
  • Genetic Drift
  • Genetics, Population
  • Haplotypes / genetics
  • History, Ancient
  • Hominidae*
  • Humans
  • Lactase / genetics*
  • Lactase / metabolism
  • Lactose Tolerance Test
  • Microsatellite Repeats / genetics*
  • Milk
  • Selection, Genetic


  • DNA Primers
  • Lactase