Cited by 91Forensic and Genetic ResearchRace, Genetics, and SocietyGenetic diversity and population structure

Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA

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Lao, Oscar, Vallone, Peter M., Coble, Michael D., Diegoli, Toni M., van Oven, Mannis, van der Gaag, Kristiaan J., Pijpe, Jeroen, de Knijff, Peter +1 more·2010·Human Mutation

Abstract

The current U.S. population represents an amalgam of individuals originating mainly from four continental regions (Africa, Europe, Asia and America). To study the genetic ancestry and compare with self-declared ancestry we have analyzed paternally, maternally and bi-parentally inherited DNA markers sensitive for indicating continental genetic ancestry in all four major U.S. American groups. We found that self-declared U.S. Hispanics and U.S. African Americans tend to show variable degrees of continental genetic admixture among the three genetic systems, with evidence for a marked sex-biased admixture history. Moreover, for these two groups we observed significant regional variation across the country in genetic admixture. In contrast, self-declared U.S. European and U.S. Asian Americans were genetically more homogeneous at the continental ancestry level. Two autosomal ancestry-sensitive markers located in skin pigmentation candidate genes showed significant differences in self-declared U.S. African Americans or U.S. European Americans, relative to their assumed parental populations from Africa or Europe. This provides genetic support for the importance of skin color in the complex process of ancestry identification.

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  • European Americans also have non-European ancestry, including African, Native American, and Asian, though it has been poorly quantified with some discordance among estimates even within studies.

    “Studies have shown that European Americans also have non-European ancestry, including African, Native American, and Asian, though it has been poorly quantified with some discordance among estimates even within studies.29–32”

    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [31]

    The Results (Autosomal DNA; page unavailable) report that self-declared U.S. Europeans averaged 93.2% European ancestry, with small components of other continental ancestries. But the Results (NRY-DNA and mtDNA; page unavailable) say their ancestry estimates were similar across genetic systems, and the Discussion describes relatively low admixture. The paper does not support the claim of discordant estimates within its study for this group. (LLM, conf=0.88)

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Authors
Lao, O., Vallone, P. M., Coble, M. D., Diegoli, T. M., van Oven, M., van der Gaag, K. J., Pijpe, J., de Knijff, P., & Kayser, M.
Affiliations
  • National Institute of Standards and Technology (US)
  • Leiden University Medical Center (NL)
  • Erasmus MC (NL)
Corresponding author
Kayser, Manfred
Venue
Human Mutation
Publisher
Wiley
Published
2010-09-30
Volume
31
Issue
12
Pages
E1875-E1893
ISSN
1059-7794 (ISSN-L)
OpenAlex
W2103212093
Cited by
91
References
8
Citations by year
2026: 1 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 4 · 2018: 5 · 2017: 5 · 2016: 10 · 2015: 9 · 2014: 17 · 2013: 7 · 2012: 7
FWCI
3.96
Type
journal article
Language
en
Open access
Locations
  • Human Mutation (publishedVersion)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • HAL (submittedVersion, other-oa)
  • Leiden Repository (Leiden University) (submittedVersion)
  • RePub (Erasmus University Rotterdam) (submittedVersion)
  • Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
Funders
Nederlandse Organisatie voor Wetenschappelijk Onderzoek
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 diversity and population structure
Keywords
genetic ancestry, sex-biased admixture, Y chromosome, mitochondrial DNA, Hispanic Americans, African Americans, European Americans, Asian Americans, regional genetic variation
MeSH terms
Black or African American, DNA, Mitochondrial, Europe, Female, Genealogy and Heraldry, Genetic Markers, Hispanic or Latino, Humans, Male, Pedigree, United States, Genome, Human, Chromosomes, Human, Y, Asian People, Racial Groups

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