Abstract
Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. In this review article, we summarize the most common methods of global and local genetic ancestry estimation and discuss the use of admixture mapping studies in human diseases.
Highlights
linkage disequilibrium (LD) Phasing Requirement Genetic Map Physical MapNumber of Ancestral Populations Reference CHROMOPAINTER EILA
Given the importance of genetic ancestry in medicine, here, we provide an updated review of the most common methods for global and local genetic ancestry estimation, and of their use in admixture mapping approaches, highlighting a few key findings from the recent literature
Liu and colleagues performed an admixture mapping study of blood pressure phenotypes using WES data from African American individuals to under-stand their higher prevalence of hypertension, revealing four regions enriched in African ancestry linked to diastolic blood pressure, two of them overlapping with regions that were significantly associated with mean arterial pressure [90]
Summary
Admixed populations are the result of gene flow between reproductively isolated groups, owing to events that have occurred throughout human history, including migratory events, the discovery of new territories, or the slave trade. The length of the chromosome segments inherited from the different ancestral populations will be proportional to the time elapsed since the admixture event. Several studies support that genetic ancestry and admixture can partially explain the differences in the prevalence of complex diseases and treatment responses between population groups, due to the unequal distribution of allelic frequencies of the underlying causal variants across populations. Many studies support the existence of genetic variants affecting drug metabolism, transport, and toxicity, which vary widely among populations and ethnic groups [10,11] In this sense, the response to the anticoagulant warfarin has been studied in different admixed populations in order to explain how genetic ancestries could contribute to the interindividual response to the treatment [12]. We discuss the potential of Generation Sequencing (NGS) data for ancestry estimation
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