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Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

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Abstract

We and others have identified several hundred ancestry informative markers (AIMs) with large allele frequency differences between different major ancestral groups. For this study, a panel of 199 widely distributed AIMs was used to examine a diverse set of 796 DNA samples including self-identified European Americans, West Africans, East Asians, Amerindians, African Americans, Mexicans, Mexican Americans, Puerto Ricans and South Asians. Analysis using a Bayesian clustering algorithm (STRUCTURE) showed grouping of individuals with similar ethnic identity without any identifier other than the AIMs genotyping and showed admixture proportions that clearly distinguished different individuals of mixed ancestry. Additional analyses showed that, for the majority of samples, the predicted ethnic identity corresponded with the self-identified ethnicity at high probability (P > 0.99). Overall, the study demonstrates that AIMs can provide a useful adjunct to forensic medicine, pharmacogenomics and disease studies in which major ancestry or ethnic affiliation might be linked to specific outcomes.

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Acknowledgments

Support for this research was provided by National Institute of Health grants U01-DK57249, AR44804, AR50267 and AR20684.

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Authors and Affiliations

  1. Rowe Program in Human Genetics, Departments of Biological chemistry and Medicine, University of California, One Shields Avenue, Davis, CA, 95616-8669, USA

    Nan Yang, Hongzhe Li, Russell Shigeta & Michael F. Seldin

  2. Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, CA, USA

    Lindsey A. Criswell

  3. University of Uppsala, Uppsala, Sweden

    Peter K. Gregersen

  4. The Robert S. Boas Center for Genomics and Human Genetics, North Shore Lij for Medical Research, Manhasset, NY, USA

    Marta E. Alarcon-Riquelme

  5. Comprehensive Cancer Center, Ohio State University, Colombus, OH, USA

    Rick Kittles

  6. Obras Sociales Del Hermano Pedro, Antigua, Guatemala

    Gabriel Silva

  7. Institute for Genetic Medicine, Universtiy of Southern California, Los Angeles, CA, USA

    Pragna I. Patel

  8. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    John W. Belmont

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  1. Nan Yang
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  2. Hongzhe Li
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  3. Lindsey A. Criswell
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  4. Peter K. Gregersen
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  5. Marta E. Alarcon-Riquelme
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  6. Rick Kittles
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  8. Gabriel Silva
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  9. Pragna I. Patel
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  11. Michael F. Seldin
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Corresponding author

Correspondence to Michael F. Seldin.

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Yang, N., Li, H., Criswell, L.A. et al. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet 118, 382–392 (2005). https://doi.org/10.1007/s00439-005-0012-1

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  • DOI: https://doi.org/10.1007/s00439-005-0012-1

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