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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| Authors: | Nan Yang Hongzhe Li Lindsey A Criswell Peter K Gregersen Marta E Alarcon-Riquelme Rick Kittles Russell Shigeta Gabriel Silva Pragna I Patel John W Belmont Michael F Seldin |
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| Institution: | (1) Rowe Program in Human Genetics, Departments of Biological chemistry and Medicine, University of California, One Shields Avenue, Davis, CA 95616-8669, USA;(2) Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, CA, USA;(3) University of Uppsala, Uppsala, Sweden;(4) The Robert S. Boas Center for Genomics and Human Genetics, North Shore Lij for Medical Research, Manhasset, NY, USA;(5) Comprehensive Cancer Center, Ohio State University, Colombus, OH, USA;(6) Obras Sociales Del Hermano Pedro, Antigua, Guatemala;(7) Institute for Genetic Medicine, Universtiy of Southern California, Los Angeles, CA, USA;(8) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |
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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.Electronic Supplementary Material Supplementary material is available for this article at |
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