Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records

Logan Dumitrescu, Marylyn D. Ritchie, Kristin Brown-Gentry, Jill M. Pulley, Melissa Basford, Joshua C. Denny, Jorge R. Oksenberg, Dan M. Roden, Jonathan L. Haines, Dana C. Crawford

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Abstract

Purpose: The Vanderbilt DNA Databank (BioVU) is a biorepository that currently contains >80,000 DNA samples linked to electronic medical records. Although BioVU is a valuable source of samples and phenotypes for genetic association studies, it is unclear whether the administratively assigned race/ethnicity in BioVU can accurately describe and be used as a proxy for genetic ancestry. Methods: We genotyped 360 single nucleotide polymorphisms on the Illumina DNA Test Panel containing ancestry informative markers in 1910 BioVU samples with observer-reported ancestry and 384 samples from the Multiple Sclerosis Genetics Group with self-reported ancestry. Genetic ancestry was inferred for all individuals using Structure 2.2. Results: More than 98% of observer-reported European Americans were genetically inferred to have at least 60% European ancestry. Ninety-three percent of observer-reported African Americans were genetically inferred to be predominantly of African ancestry. We determined that the concordance of observer-reported race/ethnicity and inferred genetic ancestry was not significantly different from that of self-reported race/ethnicity in either population (P = 0.09 and 0.94 in European Americans and African Americans, respectively). Conclusions: Observer-reported race/ethnicity for European Americans and African Americans approximates genetic ancestry as well as self-reported race/ethnicity, making biorepositories linked to electronic medical records such as BioVU a viable source of DNA samples for future large-scale genetic association studies.

Original languageEnglish (US)
Pages (from-to)648-650
Number of pages3
JournalGenetics in Medicine
Volume12
Issue number10
DOIs
StatePublished - Oct 1 2010

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All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Dumitrescu, L., Ritchie, M. D., Brown-Gentry, K., Pulley, J. M., Basford, M., Denny, J. C., Oksenberg, J. R., Roden, D. M., Haines, J. L., & Crawford, D. C. (2010). Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genetics in Medicine, 12(10), 648-650. https://doi.org/10.1097/GIM.0b013e3181efe2df