Abstract:
: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.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Rosenberg NA,Vanliere JMdoi
10.1002/gepi.20400subject
Has Abstractpub_date
2009-09-01 00:00:00pages
479-87issue
6eissn
0741-0395issn
1098-2272journal_volume
33pub_type
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