Crawford Dana C, Goodloe Robert, Farber-Eger Eric, Boston Jonathan, Pendergrass Sarah A, Haines Jonathan L, Ritchie Marylyn D, Bush William S
Department of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, USA.
Hum Hered. 2015;79(3-4):137-46. doi: 10.1159/000381805. Epub 2015 Jul 28.
BACKGROUND/AIMS: Present-day limited resources demand DNA and phenotyping alternatives to the traditional prospective population-based epidemiologic collections.
To accelerate genomic discovery with an emphasis on diverse populations, we--as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study--accessed all non-European American samples (n = 15,863) available in BioVU, the Vanderbilt University biorepository linked to de-identified electronic medical records, for genomic studies as part of the larger Population Architecture using Genomics and Epidemiology (PAGE) I study. Given previous studies have cautioned against the secondary use of clinically collected data compared with epidemiologically collected data, we present here a characterization of EAGLE BioVU, including the billing and diagnostic (ICD-9) code distributions for adult and pediatric patients as well as comparisons made for select health metrics (body mass index, glucose, HbA1c, HDL-C, LDL-C, and triglycerides) with the population-based National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples (NHANES III, n = 7,159; NHANES 1999-2002, n = 7,839).
Overall, the distributions of billing and diagnostic codes suggest this clinical sample is a mixture of healthy and sick patients like that expected for a contemporary American population.
Little bias is observed among health metrics, suggesting this clinical collection is suitable for genomic studies along with traditional epidemiologic cohorts.
背景/目的：在当前资源有限的情况下，需要有DNA和表型分析的替代方法，以取代传统的基于前瞻性人群的流行病学数据收集方式。
为了加速基因组发现研究，重点关注不同人群，作为“环境相关基因的流行病学架构”（EAGLE）研究的一部分，我们获取了BioVU中所有非欧裔美国人样本（n = 15,863）用于基因组研究。BioVU是范德堡大学的生物样本库，与去识别化的电子病历相关联，是规模更大的“利用基因组学和流行病学构建人群架构”（PAGE）I研究的一部分。鉴于先前的研究曾告诫，与流行病学收集的数据相比，临床收集的数据二次使用存在问题，我们在此展示了EAGLE BioVU的特征，包括成人和儿童患者的计费和诊断（ICD - 9）代码分布，以及与基于人群的、与DNA样本相关的美国国家健康和营养检查调查（NHANES）（NHANES III，n = 7,159；NHANES 1999 - 2002，n = 7,839）在选定健康指标（体重指数、血糖、糖化血红蛋白、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和甘油三酯）方面的比较。
总体而言，计费和诊断代码的分布表明，该临床样本是健康和患病患者的混合体，与当代美国人群的预期情况相符。
在健康指标方面几乎未观察到偏差，这表明该临床样本集与传统流行病学队列一样，适用于基因组研究。
