Population structure in admixed populations: Effect of admixture dynamics on the pattern of linkage disequilibrium

C. L. Pfaff, E. J. Parra, C. Bonilla, K. Hiester, P. M. McKeigue, M. I. Kamboh, R. G. Hutchinson, R. E. Ferrell, E. Boerwinkle, M. D. Shriver

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196 Scopus citations


Gene flow between genetically distinct populations creates linkage disequilibrium (admixture linkage disequilibrium [ALD]) among all loci (linked and unlinked) that have different allele frequencies in the founding populations. We have explored the distribution of ALD by using computer simulation of two extreme models of admixture: the hybrid-isolation (HI) model, in which admixture occurs in a single generation, and the continuous-gene-flow (CGF) model, in which admixture occurs at a steady rate in every generation. Linkage disequilibrium patterns in African American population samples from Jackson, MS, and from coastal South Carolina resemble patterns observed in the simulated CGF populations, in two respects. First, significant association between two loci (FY and AT3) separated by 22 cM was detected in both samples. The retention of ALD over relatively large (>10 cM) chromosomal segments is characteristic of a CGF pattern of admixture but not of an HI pattern. Second, significant associations were also detected between many pairs of unlinked loci, as observed in the CGF simulation results but not in the simulated HI populations. Such a high rate of association between unlinked markers in these populations could result in false-positive linkage signals in an admixture-mapping study. However, we demonstrate that by conditioning on parental admixture, we can distinguish between true linkage and association resulting from shared ancestry. Therefore, populations with a CGF history of admixture not only are appropriate for admixture mapping but also have greater power for detection of linkage disequilibrium over large chromosomal regions than do populations that have experienced a pattern of admixture more similar to the HI model, if methods are employed that detect and adjust for disequilibrium caused by continuous admixture.

Original languageEnglish (US)
Pages (from-to)198-207
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 2001

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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