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Measuring European population stratification with microarray genotype data.

Marc Bauchet1, Brian McEvoy, Laurel N Pearson

  • 1Department of Anthropology, Pennsylvania State University, University Park, PA 16801, USA. marcb@psu.edu

American Journal of Human Genetics
|April 17, 2007
PubMed
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Understanding population genetic stratification is key for gene discovery. This study reveals significant north-south and east-west ancestry trends in Europeans, highlighting the need for ancestry informative markers.

Area of Science:

  • Population Genetics
  • Human Ancestry
  • Genomic Association Studies

Background:

  • Accurate understanding of population genetic stratification is essential for identifying genes associated with complex traits.
  • Association mapping studies require careful consideration of within-population ancestry differences.

Purpose of the Study:

  • To explore population structure and genetic stratification within European individuals.
  • To evaluate the utility of European ancestry informative markers (EuroAIMs) for ancestry estimation and correction.

Main Methods:

  • Genome-wide typing of approximately 10,000 single-nucleotide polymorphisms (SNPs) in 297 individuals.
  • Analysis of population structure using genomic data.
  • Selection and application of EuroAIMs for ancestry analysis.

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Main Results:

  • Identified significant axes of genetic stratification in Europeans, notably a northern-southeastern trend and an east-west axis.
  • Demonstrated the effectiveness of EuroAIMs in estimating and correcting for ancestry.
  • Found that commonly used sample panels (Coriell Caucasian, CEPH Utah) represent distinct subsets of European ancestry.

Conclusions:

  • European populations exhibit significant genetic stratification that must be accounted for in genetic studies.
  • EuroAIMs are valuable tools for managing and correcting for population structure in genetic association studies.
  • Standard proxy sample panels may not fully represent the diversity of European ancestry.