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Demonstrating stratification in a European American population

Campbell, C D; Ogburn, E L; Lunetta, K L; Lyon, H N; Freedman, M L; Groop, Leif LU ; Altshuler, D; Ardlie, K G and Hirschhorn, J N (2005) In Nature Genetics 37(8). p.868-872
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(1-4). Empirical studies have found little evidence of stratification in European-derived populations, but potentially significant levels of stratification could not be ruled out(5-7). We studied a European American panel discordant for height, a heritable trait that varies widely across Europe(8). Genotyping 178 SNPs and applying standard analytical methods(6,9-11) yielded no evidence of stratification. But a SNP in the gene LCT that varies widely in frequency across Europe(12) was strongly... (More)
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(1-4). Empirical studies have found little evidence of stratification in European-derived populations, but potentially significant levels of stratification could not be ruled out(5-7). We studied a European American panel discordant for height, a heritable trait that varies widely across Europe(8). Genotyping 178 SNPs and applying standard analytical methods(6,9-11) yielded no evidence of stratification. But a SNP in the gene LCT that varies widely in frequency across Europe(12) 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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Genetics
volume
37
issue
8
pages
868 - 872
publisher
Nature Publishing Group
external identifiers
  • wos:000230880400017
  • pmid:16041375
  • scopus:23044468633
ISSN
1546-1718
DOI
10.1038/ng1607
language
English
LU publication?
yes
id
b5ccbf79-98bc-49d5-85b7-38a82a0b8643 (old id 231456)
date added to LUP
2007-08-08 14:11:35
date last changed
2017-11-05 04:21:31
@article{b5ccbf79-98bc-49d5-85b7-38a82a0b8643,
  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(1-4). Empirical studies have found little evidence of stratification in European-derived populations, but potentially significant levels of stratification could not be ruled out(5-7). We studied a European American panel discordant for height, a heritable trait that varies widely across Europe(8). Genotyping 178 SNPs and applying standard analytical methods(6,9-11) yielded no evidence of stratification. But a SNP in the gene LCT that varies widely in frequency across Europe(12) was strongly associated with height (P &lt; 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.},
  author       = {Campbell, C D and Ogburn, E L and Lunetta, K L and Lyon, H N and Freedman, M L and Groop, Leif and Altshuler, D and Ardlie, K G and Hirschhorn, J N},
  issn         = {1546-1718},
  language     = {eng},
  number       = {8},
  pages        = {868--872},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Demonstrating stratification in a European American population},
  url          = {http://dx.doi.org/10.1038/ng1607},
  volume       = {37},
  year         = {2005},
}