Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.
OBJECTIVE
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.
Dumitrescu
Logan
L
Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, USA.
Ritchie
Marylyn D
MD
Brown-Gentry
Kristin
K
Pulley
Jill M
JM
Basford
Melissa
M
Denny
Joshua C
JC
Oksenberg
Jorge R
JR
Roden
Dan M
DM
Haines
Jonathan L
JL
Crawford
Dana C
DC
D018070:Biological Specimen Banks; D044383:Black People; D030541:Databases, Genetic; D030561:Databases, Nucleic Acid; D057286:Electronic Health Records; D005006:Ethnicity / Q000235:genetics; D056726:Genetic Association Studies; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D016347:Medical Records Systems, Computerized; D015588:Observer Variation; D010641:Phenotype; D044469:Racial Groups / Q000235:genetics; D057566:Self Report; D044465:White People; D001741:Black or African American
D005819:Genetic Markers