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Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits.

Crawford DC, Goodloe R, Farber-Eger E, Boston J, Pendergrass SA, Haines JL, Ritchie MD, Bush WS
Hum Hered. 2015 79 (3-4): 137-46

PMID: 26201699 · PMCID: PMC4528966 · DOI:10.1159/000381805

BACKGROUND/AIMS - Present-day limited resources demand DNA and phenotyping alternatives to the traditional prospective population-based epidemiologic collections.

METHODS - 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).

RESULTS - 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.

CONCLUSION - Little bias is observed among health metrics, suggesting this clinical collection is suitable for genomic studies along with traditional epidemiologic cohorts.

2015 S. Karger AG, Basel.

MeSH Terms (13)

Adult African Americans Child Demography Female Gene-Environment Interaction Genomics Genomics Hispanic Americans Humans Male Nutrition Surveys Quantitative Trait, Heritable

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