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

作者：Dumitrescu Logan; Ritchie Marylyn D; Brown Gentry Kristin; Pulley Jill M; Basford Melissa; Denny Joshua C; Oksenberg Jorge R; Roden Dan M; Haines Jonathan L; Crawford Dana C^*

来源：Genetics in Medicine, 2010, 12(10): 648-650.

DOI：10.1097/GIM.0b013e3181efe2df

• biorepositories
• admixture
• ancestry
• electronic medical records
• population stratification

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. Genet Med 2010: 12(10): 648-650.

• 出版日期2010-10