Human Population Stratification and its Assessment by Microarray Genotyping


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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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:

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