Admixture is a common type of gene flow in human populations, and occurs when individuals from two or more parental populations that have been isolated for several generations, form a new hybrid population. Stratification occurs when a population shows a more or less cryptic level of structure, which can affect the result of epidemiological studies. Admixed populations are common in North and Latin America, Central Asia and South Africa. In this review, we analyze how population stratification and admixture affect the design and results of population genetics and association studies involving pharmacogenetics loci and drug-response related traits. Specifically, we discuss how admixture and population stratification is related with the allelic architecture of complex traits and illustrate how admixture may be a confounding in population genetics studies designed to infer the action of natural selection. We also analyze how admixture and population stratification affect case-control association studies, and give some real and hypothetical examples relevant for pharmacogenetics. Finally, we briefly describe methods and software developed to control for the effect of population stratification: genomic control, regression, structured association methods and principal component analysis.
Chapter 2: Controlling the effects of population stratification by admixture in pharmacogenetics
FUSELLI, Silvia
2007
Abstract
Admixture is a common type of gene flow in human populations, and occurs when individuals from two or more parental populations that have been isolated for several generations, form a new hybrid population. Stratification occurs when a population shows a more or less cryptic level of structure, which can affect the result of epidemiological studies. Admixed populations are common in North and Latin America, Central Asia and South Africa. In this review, we analyze how population stratification and admixture affect the design and results of population genetics and association studies involving pharmacogenetics loci and drug-response related traits. Specifically, we discuss how admixture and population stratification is related with the allelic architecture of complex traits and illustrate how admixture may be a confounding in population genetics studies designed to infer the action of natural selection. We also analyze how admixture and population stratification affect case-control association studies, and give some real and hypothetical examples relevant for pharmacogenetics. Finally, we briefly describe methods and software developed to control for the effect of population stratification: genomic control, regression, structured association methods and principal component analysis.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
