Patterns of human genetic diversity: implications for human evolutionary history and disease

Annu Rev Genomics Hum Genet. 2003;4:293-340. doi: 10.1146/annurev.genom.4.070802.110226.


Since the completion of the human genome sequencing project, the discovery and characterization of human genetic variation is a principal focus for future research. Comparative studies across ethnically diverse human populations and across human and nonhuman primate species is important for reconstructing human evolutionary history and for understanding the genetic basis of human disease. In this review, we summarize data on patterns of human genetic diversity and the evolutionary forces (mutation, genetic drift, migration, and selection) that have shaped these patterns of variation across both human populations and the genome. African population samples typically have higher levels of genetic diversity, a complex population substructure, and low levels of linkage disequilibrium (LD) relative to non-African populations. We discuss these differences and their implications for mapping disease genes and for understanding how population and genomic diversity have been important in the evolution, differentiation, and adaptation of humans.

Publication types

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

MeSH terms

  • Biological Evolution*
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Selection, Genetic


  • Genetic Markers