Patterns of shared signatures of recent positive selection across human populations

Nat Ecol Evol. 2018 Apr;2(4):713-720. doi: 10.1038/s41559-018-0478-6. Epub 2018 Feb 19.


Signatures of recent positive selection often overlap across human populations, but the question of how often these overlaps represent a single ancestral event remains unresolved. If a single selective event spread across many populations, the same sweeping haplotype should appear in each population and the selective pressure could be common across populations and environments. Identifying such shared selective events could identify genomic loci and human traits important in recent history across the globe. In addition, genomic annotations that recently became available could help attach these signatures to a potential gene and molecular phenotype selected across populations. Here, we present a catalogue of selective sweeps in humans, and identify those that overlap and share a sweeping haplotype. We connect these sweep overlaps with potential biological mechanisms at several loci, including potential new sites of adaptive introgression, the glycophorin locus associated with malarial resistance and the alcohol dehydrogenase cluster associated with alcohol dependency.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcoholism / genetics*
  • Glycophorins / genetics*
  • Haplotypes / genetics*
  • Humans
  • Malaria / genetics*
  • Neurophysins / genetics*
  • Protein Precursors / genetics*
  • Selection, Genetic / genetics*
  • Vasopressins / genetics*


  • AVP protein, human
  • Glycophorins
  • Neurophysins
  • Protein Precursors
  • Vasopressins