Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.
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DOI：
10.1097/gim.0b013e3181efe2df
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发表时间：
2010-10
期刊：
影响因子：
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通讯作者：
Crawford DC
中科院分区：
文献类型：
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作者：
Dumitrescu L;Ritchie MD;Brown-Gentry K;Pulley JM;Basford M;Denny JC;Oksenberg JR;Roden DM;Haines JL;Crawford DC
范德比尔特DNA数据库（BioVU）是一个生物储存库，目前包含与电子医疗记录相关的80000个DNA样本。虽然BioVU是遗传关联研究的样本和表型的宝贵来源，但目前尚不清楚BioVU中行政分配的种族/民族是否可以准确描述并用作遗传祖先的代理。我们在包含祖先信息标记（AIMs）的Illumina DNA测试面板上对1910个具有观察者报告祖先的BioVU样本和384个来自多发性硬化症遗传组的具有自我报告祖先的样本进行了360个snp的基因分型。使用STRUCTURE 2.2推断所有个体的遗传祖先。超过98%的观察者报告的欧洲裔美国人（EA）被遗传推断至少有60%的欧洲血统。在观察者报告的非裔美国人（AA）中，有93人的基因推断主要是非洲血统。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种人群中自我报告的种族/民族没有显著差异（在欧洲美国人和非洲美国人中分别p=0.09和0.94）。观察者报告的欧洲裔美国人和非洲裔美国人的种族/民族近似于遗传祖先以及自我报告的种族/民族，这使得与emr（如BioVU）相关的生物储存库成为未来大规模遗传关联研究的DNA样本的可行来源。
The Vanderbilt DNA Databank (BioVU) is a biorepository that currently contains >80,000 DNA samples linked to electronic medical records. While 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 SNPs on the Illumina DNA Test Panel containing ancestry informative markers (AIMs) 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 (EA) was genetically inferred to have at least 60% European ancestry. Ninety-three of observer-reported African Americans (AA) was 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 EMRs such as BioVU a viable source of DNA samples for future large-scale genetic association studies.