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

Nat Genet. 2003 Apr;33(4):518-21. doi: 10.1038/ng1128. Epub 2003 Mar 24.


More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • African Continental Ancestry Group
  • Alleles
  • Computational Biology
  • Databases as Topic
  • Genome, Human*
  • Humans
  • Linear Models
  • Linkage Disequilibrium*
  • Polymorphism, Single Nucleotide*