Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, USA.
Genet Med. 2010 Oct;12(10):648-50. doi: 10.1097/GIM.0b013e3181efe2df.
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.
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.
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).
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.
范德比尔特 DNA 数据库（BioVU）是一个生物库，目前包含超过 80000 个与电子病历相关联的 DNA 样本。虽然 BioVU 是遗传关联研究中样本和表型的宝贵来源，但不清楚 BioVU 中行政分配的种族/民族是否能准确描述和用作遗传祖先的替代物。
我们对 1910 个 BioVU 样本中的 360 个单核苷酸多态性进行了基因分型，这些样本包含了具有观察者报告的祖先的 Illumina DNA 测试面板和 384 个来自多发性硬化症遗传学小组的具有自我报告的祖先的样本。使用 Structure 2.2 对所有个体进行了遗传祖先推断。
超过 98%的观察者报告的欧洲裔美国人被遗传推断为至少有 60%的欧洲祖先。93%的观察者报告的非裔美国人被遗传推断为主要是非洲祖先。我们确定，观察者报告的种族/民族和推断的遗传祖先的一致性与两个群体中自我报告的种族/民族的一致性没有显著差异（在欧洲裔美国人和非裔美国人中，分别为 P = 0.09 和 0.94）。
对于欧洲裔美国人和非裔美国人来说，观察者报告的种族/民族与遗传祖先以及自我报告的种族/民族相近，这使得与电子病历相关联的生物库，如 BioVU，成为未来大规模遗传关联研究中 DNA 样本的可行来源。
