Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits

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...

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Bibliographic Details
Published in:Human heredity 2015-01, Vol.79 (3/4), p.137-146
Main Authors: Crawford, Dana C., Goodloe, Robert, Farber-Eger, Eric, Boston, Jonathan, Pendergrass, Sarah A., Haines, Jonathan L., Ritchie, Marylyn D., Bush, William S.
Format: Article
Language:English
Subjects:
Adult
African Americans
African Americans - genetics
Child
Demography
Deoxyribonucleic acid
DNA
Electronic health records
Epidemiology
Female
Gene-Environment Interaction
Genomics
Genotype & phenotype
Hispanic Americans - genetics
Hispanic people
Humans
Male
Nutrition Surveys
Original Paper
Quantitative Trait, Heritable
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Summary: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.
ISSN:0001-5652
1423-0062
DOI:10.1159/000381805