European American stratification in ovarian cancer case control data: The utility of genome-wide data for inferring ancestry

Paola Raska, Edwin Iversen, Ann Chen, Zhihua Chen, Brooke L. Fridley, Jennifer Permuth-Wey, Ya Yu Tsai, Robert A. Vierkant, Ellen L. Goode, Harvey Risch, Joellen M. Schildkraut, Thomas A. Sellers, Jill Barnholtz-Sloan

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3 Scopus citations


We investigated the ability of several principal components analysis (PCA)-based strategies to detect and control for population stratification using data from a multi-center study of epithelial ovarian cancer among women of European-American ethnicity. These include a correction based on an ancestry informative markers (AIMs) panel designed to capture European ancestral variation and corrections utilizing un-thinned genome-wide SNP data; case-control samples were drawn from four geographically distinct North-American sites. The AIMs-only and genome-wide first principal components (PC1) both corresponded to the previously described North or Northwest-Southeast axis of European variation. We found that the genome-wide PCA captured this primary dimension of variation more precisely and identified additional axes of genome-wide variation of relevance to epithelial ovarian cancer. Associations evident between the genome-wide PCs and study site corroborate North American immigration history and suggest that undiscovered dimensions of variation lie within Northern Europe. The structure captured by the genome-wide PCA was also found within control individuals and did not reflect the case-control variation present in the data. The genome-wide PCA highlighted three regions of local LD, corresponding to the lactase (LCT) gene on chromosome 2, the human leukocyte antigen system (HLA) on chromosome 6 and to a common inversion polymorphism on chromosome 8. These features did not compromise the efficacy of PCs from this analysis for ancestry control. This study concludes that although AIMs panels are a cost-effective way of capturing population structure, genome-wide data should preferably be used when available.

Original languageEnglish (US)
Article numbere35235
JournalPloS one
Issue number5
StatePublished - May 9 2012

ASJC Scopus subject areas

  • General


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