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Demonstrating stratification in a European American population

Authors :
Kristin G. Ardlie
Leif Groop
Kathryn L. Lunetta
Elizabeth L. Ogburn
Matthew L. Freedman
David Altshuler
Catarina D. Campbell
Helen N. Lyon
Joel N. Hirschhorn
Source :
Nature Genetics. 37:868-872
Publication Year :
2005
Publisher :
Springer Science and Business Media LLC, 2005.

Abstract

Population stratification occurs in case-control association studies when allele frequencies differ between cases and controls because of ancestry. Stratification may lead to false positive associations, although this issue remains controversial. Empirical studies have found little evidence of stratification in European-derived populations, but potentially significant levels of stratification could not be ruled out. We studied a European American panel discordant for height, a heritable trait that varies widely across Europe. Genotyping 178 SNPs and applying standard analytical methods yielded no evidence of stratification. But a SNP in the gene LCT that varies widely in frequency across Europe was strongly associated with height (P < 10(-6)). This apparent association was largely or completely due to stratification; rematching individuals on the basis of European ancestry greatly reduced the apparent association, and no association was observed in Polish or Scandinavian individuals. The failure of standard methods to detect this stratification indicates that new methods may be required.

Details

ISSN :
15461718 and 10614036
Volume :
37
Database :
OpenAIRE
Journal :
Nature Genetics
Accession number :
edsair.doi.dedup.....07bd6cf97825b9d720b4675bfce3c837
Full Text :
https://doi.org/10.1038/ng1607