Measuring European population stratification with microarray genotype data

Am J Hum Genet. 2007 May;80(5):948-56. doi: 10.1086/513477. Epub 2007 Mar 22.


A proper understanding of population genetic stratification--differences in individual ancestry within a population--is crucial in attempts to find genes for complex traits through association mapping. We report on genomewide typing of approximately 10,000 single-nucleotide polymorphisms in 297 individuals, to explore population structure in Europeans of known and unknown ancestry. The results reveal the presence of several significant axes of stratification, most prominently in a northern-southeastern trend, but also along an east-west axis. We also demonstrate the selection and application of EuroAIMs (European ancestry informative markers) for ancestry estimation and correction. The Coriell Caucasian and CEPH (Centre d'Etude du Polymorphisme Humain) Utah sample panels, often used as proxies for European populations, are found to reflect different subsets of the continent's ancestry.

Publication types

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

MeSH terms

  • Data Interpretation, Statistical
  • Ethnicity / genetics
  • Europe
  • Genetics, Population*
  • Genotype
  • Humans
  • Oligonucleotide Array Sequence Analysis / statistics & numerical data*
  • Polymorphism, Single Nucleotide
  • Racial Groups / genetics