Human Population Stratification and its Assessment by Microarray Genotyping

Abstract

Population stratification is an important phenomenon in biomedical research and anthropology. The recent microarray technology allows genome‐wide assessment of this structure and opens new avenues for understanding and using the rich diversity of the human genome across populations.

Keywords: population stratification; population structure; microarray genotyping; SNP; genetic ancestry

Figure 1.

Two main scenarios resulting in population stratification. (a) Two populations of different allele frequencies at many loci contribute different proportions of individuals to cases and controls. (b) Two populations of different allele frequencies at many loci contribute different admixture proportions to cases and controls.

Figure 2.

Individual panels of European‐derived ancestry in the context of European stratification. (a) The Coriell Caucasian panel (n=42), based on 9114 genome‐wide SNPs. (b) CEPH Utah individuals (n=74), using 6207 genome‐wide SNPs. (c) STRUCTURE runs of the Coriell Caucasian individuals based on all available SNPs (bottom) and sets of SNPs most informative for the north‐southeast European axis of ancestry (mainly reflected in PC1). Redrawn from Bauchet et al..

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References

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Further Reading

Jobling M, Hurles M and Tyler‐Smith C (2004) Human Evolutionary Genetics: Origins, People and Diseases. Garland Science.

Reardon J (2005) Race to the Finish: Identity and Governance in an Age of Genomics. Princeton: Princeton University Press.

Recent developments in correcting population structure in association studies:

Cheng KF and Lin WJ (2007) Simultaneously correcting for population stratification and genotyping error in case‐control association studies. American Journal of Human Genetics 81(4): 726–743.

Gorroochurn P, Hodge SE, Heiman GA and Greenberg DA (2007) A unified approach for quantifying, testing and correcting population stratification in case‐control association studies. Human Heredity 64(3): 149–159.

Hinds DA, Stokowski RP, Patil N et al. (2004) Matching strategies for genetic association studies in structured populations. American Journal of Human Genetics 74(2): 317–325.

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Kimmel G, Jordan MI, Halperin E, Shamir R and Karp RM (2007) A randomization test for controlling population stratification in whole‐genome association studies. American Journal of Human Genetics 81(5): 895–905.

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How to Cite close
Bauchet, Marc(Mar 2008) Human Population Stratification and its Assessment by Microarray Genotyping. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020797]