Variants associated with common disease are not unusually differentiated in frequency across populations

Am J Hum Genet. 2006 Jan;78(1):130-6. doi: 10.1086/499287. Epub 2005 Nov 16.


Genetic variants that contribute to risk of common disease may differ in frequency across populations more than random variants in the genome do, perhaps because they have been exposed to population-specific natural selection. To assess this hypothesis empirically, we analyzed data from two groups of single-nucleotide polymorphisms (SNPs) that have shown reproducible (n = 9) or reported (n = 39) associations with common diseases. We compared the frequency differentiation (between Europeans and Africans) of the disease-associated SNPs with that of random SNPs in the genome. These common-disease-associated SNPs are not significantly more differentiated across populations than random SNPs. Thus, for the data examined here, ethnicity will not be a good predictor of genotype at many common-disease-associated SNPs, just as it is rarely a good predictor of genotype at random SNPs in the genome.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blacks / genetics
  • Gene Frequency
  • Genetic Diseases, Inborn / genetics*
  • Genetic Variation*
  • Genetics, Population*
  • Humans
  • Polymorphism, Single Nucleotide
  • Selection, Genetic*
  • Whites / genetics