African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping

Annu Rev Genomics Hum Genet. 2008;9:403-33. doi: 10.1146/annurev.genom.9.081307.164258.


Comparative studies of ethnically diverse human populations, particularly in Africa, are important for reconstructing human evolutionary history and for understanding the genetic basis of phenotypic adaptation and complex disease. African populations are characterized by greater levels of genetic diversity, extensive population substructure, and less linkage disequilibrium (LD) among loci compared to non-African populations. Africans also possess a number of genetic adaptations that have evolved in response to diverse climates and diets, as well as exposure to infectious disease. This review summarizes patterns and the evolutionary origins of genetic diversity present in African populations, as well as their implications for the mapping of complex traits, including disease susceptibility.

Publication types

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

MeSH terms

  • Acquired Immunodeficiency Syndrome / genetics
  • Africa
  • Chromosomes, Human, Y / genetics
  • Communicable Diseases / genetics
  • DNA, Mitochondrial / genetics
  • Diabetes Mellitus, Type 2 / genetics
  • Diet
  • Disease / genetics*
  • Evolution, Molecular
  • Female
  • Genetic Variation*
  • Genetics, Population
  • Haplotypes
  • Humans
  • Hypertension / genetics
  • Lactase / genetics
  • Linkage Disequilibrium
  • Malaria / genetics
  • Male
  • Obesity / genetics
  • Pharmacogenetics
  • Recombination, Genetic
  • Selection, Genetic
  • Tuberculosis, Pulmonary / genetics


  • DNA, Mitochondrial
  • Lactase