The use of racial, ethnic, and ancestral categories in human genetics research

Am J Hum Genet. 2005 Oct;77(4):519-32. doi: 10.1086/491747. Epub 2005 Aug 29.


The global dispersal of anatomically modern humans over the past 100,000 years has produced patterns of phenotypic variation that have exerted--and continue to exert--powerful influences on the lives of individuals and the experiences of groups. The recency of our common ancestry and continued gene flow among populations have resulted in less genetic differentiation among geographically distributed human populations than is observed in many other mammalian species. Nevertheless, differences in appearance have contributed to the development of ideas about "race" and "ethnicity" that often include the belief that significant inherited differences distinguish humans. The use of racial, ethnic, and ancestral categories in genetics research can imply that group differences arise directly through differing allele frequencies, with little influence from socially mediated mechanisms. At the same time, careful investigations of the biological, environmental, social, and psychological attributes associated with these categories will be an essential component of cross-disciplinary research into the origins, prevention, and treatment of common diseases, including those diseases that differ in prevalence among groups.

Publication types

  • Review

MeSH terms

  • Biomedical Research*
  • Ethnicity / genetics*
  • Genetics, Medical*
  • Genetics, Population
  • Humans
  • Racial Groups / genetics*