Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Jun 28;22(13):6962.
doi: 10.3390/ijms22136962.

Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases

Eva Suarez-Pajes  1 , Ana Díaz-de Usera  2 , Itahisa Marcelino-Rodríguez  1 , Beatriz Guillen-Guio  1 , Carlos Flores  1   2   3
Affiliations
Review

Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases

Eva Suarez-Pajes et al. Int J Mol Sci. .

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.

Keywords: admixture mapping; ancestry informative markers; genetic ancestry; next-generation sequencing.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Global (A) and local (B) genetic ancestries in a recently admixed population with three ancestral populations. The proportion of each of the ancestral populations is represented by the colors yellow, blue, and purple.
Figure 2
Figure 2
Scheme of an admixture mapping study. (A) LA estimates in cases and controls individuals from a recently admixed population. (B) Comparison of local ancestry scores of all chromosomal regions between cases and controls. (C) Fine mapping study on genomic regions where genetic ancestry is associated with a trait.
See this image and copyright information in PMC

References

    1. Jin W., Li R., Zhou Y., Xu S. Distribution of ancestral chromosomal segments in admixed genomes and its implications for inferring population history and admixture mapping. Eur. J. Hum. Genet. 2014;22:930–937. doi: 10.1038/ejhg.2013.265. - DOI - PMC - PubMed
    1. Guillen-Guio B., Lorenzo-Salazar J.M., Gonzalez-Montelongo R., Díaz-de Usera A., Marcelino-Rodrıguez I., Corrales A., de Leon A.C., Alonso S., Flores C. Genomic analyses of human European diversity at the southwestern edge: Isolation, African influence and disease associations in the Canary Islands. Mol. Biol. Evol. 2018;35:3010–3026. doi: 10.1093/molbev/msy190. - DOI - PMC - PubMed
    1. Loh P.R., Lipson M., Patterson N., Moorjani P., Pickrell J.K., Reich D., Berger B. Inferring admixture histories of human populations using linkage disequilibrium. Genetics. 2013;193:1233–1254. doi: 10.1534/genetics.112.147330. - DOI - PMC - PubMed
    1. Zhou Y., Qiu H., Xu S. Modeling Continuous Admixture Using Admixture-Induced Linkage Disequilibrium. Sci. Rep. 2017;7:43054. doi: 10.1038/srep43054. - DOI - PMC - PubMed
    1. Chakraborty R., Weiss K.M. Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc. Natl. Acad. Sci. USA. 1988;85:9119–9123. doi: 10.1073/pnas.85.23.9119. - DOI - PMC - PubMed

LinkOut - more resources