Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model

Am J Hum Genet. 2001 Feb;68(2):466-77. doi: 10.1086/318195. Epub 2001 Jan 19.


We propose a novel latent-class approach to detect and account for population stratification in a case-control study of association between a candidate gene and a disease. In our approach, population substructure is detected and accounted for using data on additional loci that are in linkage equilibrium within subpopulations but have alleles that vary in frequency between subpopulations. We have tested our approach using simulated data based on allele frequencies in 12 short tandem repeat (STR) loci in four populations in Argentina.

MeSH terms

  • Alleles
  • Case-Control Studies
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Population
  • Humans
  • Linkage Disequilibrium
  • Models, Genetic*
  • Tandem Repeat Sequences / genetics