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Cited by 185Forensic and Genetic ResearchRace, Genetics, and SocietyGenetic Associations and Epidemiology

Characterizing the admixed African ancestry of African Americans

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Zakharia, Fouad, Basu, Analabha, Absher, Devin, Assimes, Themistocles L, Go, Alan S, Hlatky, Mark A, Iribarren, Carlos, Knowles, Joshua W +8 more·2009·Genome Biology
DOI 10.1186/gb-2009-10-12-r141PMC PMC2812948
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Abstract

Background: Accurate, high-throughput genotyping allows the fine characterization of genetic ancestry. Here we applied recently developed statistical and computational techniques to the question of African ancestry in African Americans by using data on more than 450,000 single-nucleotide polymorphisms (SNPs) genotyped in 94 Africans of diverse geographic origins included in the HGDP, as well as 136 African Americans and 38 European Americans participating in the Atherosclerotic Disease Vascular Function and Genetic Epidemiology (ADVANCE) study. To focus on African ancestry, we reduced the data to include only those genotypes in each African American determined statistically to be African in origin. Results: From cluster analysis, we found that all the African Americans are admixed in their African components of ancestry, with the majority contributions being from West and West-Central Africa, and only modest variation in these African-ancestry proportions among individuals. Furthermore, by principal components analysis, we found little evidence of genetic structure within the African component of ancestry in African Americans. Conclusions: These results are consistent with historic mating patterns among African Americans that are largely uncorrelated to African ancestral origins, and they cast doubt on the general utility of mtDNA or Y-chromosome markers alone to delineate the full African ancestry of African Americans. Our results also indicate that the genetic architecture of African Americans is distinct from that of Africans, and that the greatest source of potential genetic stratification bias in case-control studies of African Americans derives from the proportion of European ancestry.

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  • Consistent with previous studies, the diversity of ancestry profiles of 23andMe African Americans reveal that individuals comprise the full range from 0% to 100% African ancestry, but, further, that there are differences in estimates of ancestry proportions among regions.

    “Consistent with previous studies,2,70 the diversity of ancestry profiles of 23andMe African Americans reveal that individuals comprise the full range from 0% to 100% African ancestry, but, further, that there are differences in estimates of ancestry proportions among regions.”

    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [70]

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Authors
Zakharia, F., Basu, A., Absher, D., Assimes, T. L., Go, A. S., Hlatky, M. A., Iribarren, C., Knowles, J. W., Li, J., Narasimhan, B., Sidney, S., Southwick, A., Myers, R. M., Quertermous, T., Risch, N., & Tang, H.
Affiliations
  • Stanford Medicine (US)
  • University of California, San Francisco (US)
  • HudsonAlpha Institute for Biotechnology (US)
  • Kaiser Permanente (US)
  • University of Michigan (US)
Corresponding author
Risch, Neil
ORCID
Venue
Genome Biology
Publisher
Springer Science and Business Media LLC
Published
2009-12-22
Volume
10
Issue
12
Pages
R141-R141
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
DOI
10.1186/gb-2009-10-12-r141
PMC
PMC2812948
OpenAlex
W2101633780
Cited by
185
References
2
Citations by year
2026: 5 · 2025: 11 · 2024: 13 · 2023: 15 · 2022: 11 · 2021: 21 · 2020: 9 · 2019: 5 · 2018: 7 · 2017: 9 · 2016: 9 · 2015: 20 · 2014: 13 · 2013: 13 · 2012: 9
FWCI
4.68
Type
journal article
Language
en
Open access
Licence
Locations
  • Genome biology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Deep Blue (University of Michigan) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • Alfred P. Sloan Foundation
  • National Institutes of Health (GM073059)
  • National Heart, Lung, and Blood Institute (R01HL087647, HL087647)
  • National Institute of General Medical Sciences (GM073059, R01GM073059)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
African ancestry, African Americans, genetic admixture, single nucleotide polymorphisms, West African ancestry, genetic stratification, European ancestry, ancestry informative markers
MeSH terms
Africa, Black or African American, Emigration and Immigration, Genotype, Humans, United States, Genetic Variation, Cluster Analysis, Polymorphism, Single Nucleotide, Principal Component Analysis, Black People

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