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Beyond race: towards a whole-genome perspective on human populations and genetic variation

Nature Reviews Genetics volume 5, pages 790–796 (2004)Cite this article

Abstract

The renewed emphasis on population-specific genetic variation, exemplified most prominently by the International HapMap Project, is complicated by a longstanding, uncritical reliance on existing population categories in genetic research. Race and other pre-existing population definitions (ethnicity, religion, language, nationality, culture and so on) tend to be contentious concepts that have polarized discussions about the ethics and science of research into population-specific human genetic variation. By contrast, a broader consideration of the multiple historical sources of genetic variation provides a whole-genome perspective on the ways i n which existing population definitions do, and do not, account for how genetic variation is distributed among individuals. Although genetics will continue to rely on analytical tools that make use of particular population histories, it is important to interpret findings in a broader genomic context.

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Acknowledgements

This publication was made possible by grants from the National Institute on Environmental Health Sciences and from the National Human Genome Research Institute. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIEHS, NHGRI or the National Institutes of Health. We also are grateful for comments made by L. D. Brooks and two anonymous reviewers on an earlier version.

Author information

Authors and Affiliations

  1. Department of Anthropology, 455 W. Lindsey, Room 505C, University of Oklahoma, Norman, 73019, Oklahoma, United States

    Morris W. Foster

  2. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, 77030, Texas, United States

    Richard R. Sharp

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Corresponding author

Correspondence to Morris W. Foster.

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DATABASES

Entrez

APOE

OMIM

Alzheimer disease

FURTHER INFORMATION

International HapMap Project

Human Genome Diversity Project

Glossary

ADMIXTURE

Gene flow between differentiated populations.

BLOOD QUANTUM

A legal measure of degree of Native American ancestry. The designation of 'full blood' or some fraction such as 'quarter' or 'half' blood quantum depends on how one's nineteenth century Indian ancestors were designated (often arbitrarily) and the blood quanta of subsequent ancestors who were enrolled in federally recognized tribes.

COMMON DISEASE/COMMON VARIANT HYPOTHESIS

The view that one or a few genetic contributors account for significant numbers of cases of many common, complex diseases in most or all populations.

FOUNDER EFFECT

A situation in which a new population is founded by a small number of individuals. Similar to a bottleneck, the founder effect severely reduces genetic diversity, increasing the effect of random drift.

MICROSATELLITE

A class of repetitive DNA sequences that are made up of tandemly organized repeats that are 2–8 nucleotides in length. They can be highly polymorphic and are frequently used as molecular markers in population genetics studies.

POPULATION BOTTLENECK

A marked reduction in population size followed by the survival and expansion of a small random sample of the original population.

POPULATION STRATIFICATION

Subdivision of a population into different subgroups with potentially different marker allele frequencies and different disease prevalences. This might result in participants with a disease having different allele frequencies than those without the disease that are recruited as controls.

PROSPECTIVE COHORT

Longitudinal study of individuals initially assessed for exposure to certain risk factors and then followed over time to evaluate the progression towards specific outcomes (often disease).

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Foster, M., Sharp, R. Beyond race: towards a whole-genome perspective on human populations and genetic variation. Nat Rev Genet 5, 790–796 (2004). https://doi.org/10.1038/nrg1452

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