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Letter
Nature Genetics  33, 518 - 521 (2003)
Published online: 24 March 2003; | doi:10.1038/ng1128

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

Christopher S. Carlson1, Michael A. Eberle2, Mark J. Rieder1, Joshua D. Smith1, Leonid Kruglyak2, 3 & Deborah A. Nickerson1

1  Department of Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, Washington 98195-7730, USA.

2  Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N, Seattle, Washington 98109.

3  Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

Correspondence should be addressed to Christopher S. Carlson csc47@u.washington.edu or Deborah A. Nickerson debnick@u.washington.edu
More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome1. Some of these SNPs may be associated with risk of developing common diseases2, 3, 4. To assess the power of currently available SNPs to detect such associations, we resequenced 50 genes in two ethnic samples and measured patterns of linkage disequilibrium between the subset of SNPs reported in dbSNP and the complete set of common SNPs. Our results suggest that using all 2.7 million SNPs currently in the database would detect nearly 80% of all common SNPs in European populations but only 50% of those common in the African American population and that efficient selection of a minimal subset of SNPs for use in association studies requires measurement of allele frequency and linkage disequilibrium relationships for all SNPs in dbSNP.


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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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