Replication of genetic associations as pseudoreplication due to shared genealogy

Noah A. Rosenberg, Jenna M. VanLiere

Research output: Contribution to journalArticlepeer-review


The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate studies that search for genotype-phenotype associations using linkage disequilibrium between marker loci and disease-susceptibility loci can be considered as "pseudoreplicates" rather than true replicates. We examine the size of the pseudoreplication effect in association studies simulated from evolutionary models of the history of a population, evaluating the excess probability that both of a pair of studies detect a disease association compared to the probability expected under the assumption that the two studies are independent. Each of nine combinations of a demographic model and a penetrance model leads to a detectable pseudoreplication effect, suggesting that the degree of support that can be attributed to a replicated genetic association result is less than that which can be attributed to a replicated result in a context of true independence.

Original languageEnglish (US)
Pages (from-to)479-487
Number of pages9
JournalGenetic epidemiology
Issue number6
StatePublished - 2009
Externally publishedYes


  • Coalescent
  • Meta-analysis
  • Population growth

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)


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