Genome-wide profiling of RNA from dried blood spots: convergence with Bioinformatic results derived from whole venous blood and peripheral blood mononuclear cells
Open accessAbstract
Genome-wide transcriptional profiling has emerged as a powerful tool for analyzing biological mechanisms underlying social gradients in health, but utilization in population-based studies has been hampered by logistical constraints and costs associated with venipuncture blood sampling. Dried blood spots (DBS) provide a minimally invasive, low-cost alternative to venipuncture, and in this article we evaluate how closely the substantive results from DBS transcriptional profiling correspond to those derived from parallel analyses of gold-standard venous blood samples (PAXgene whole blood and peripheral blood mononuclear cells [PBMC]). Analyses focused on differences in gene expression between African-Americans and Caucasians in a community sample of 82 healthy adults (age 18-70 years; mean 35). Across 19,679 named gene transcripts, DBS-derived values correlated r = .85 with both PAXgene and PBMC values. Results from bioinformatics analyses of gene expression derived from DBS samples were concordant with PAXgene and PBMC samples in identifying increased Type I interferon signaling and up-regulated activity of monocytes and natural killer (NK) cells in African-Americans compared to Caucasian participants. These findings demonstrate the feasibility of DBS in field-based studies of gene expression and encourage future studies of human transcriptome dynamics in larger, more representative samples than are possible with clinic- or lab-based research designs.
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Gene expression from dried blood spot samples was 85% concordant with venous PAXgene whole blood and peripheral blood mononuclear cell gold standards across 19,679 named gene transcripts, demonstrating robust and reliable technology.
“from dried blood spot samples were 85% concordant with gold-standards of venous PAXgene whole blood samples and peripheral blood mononuclear cells across 19,679 named gene transcripts, thus demonstrating that this is a robust and reliable technology [29].”
From Living Well: Protocol for a web-based program to improve quality of life in rural and urban ovarian cancer survivors (2024) · cites this paper as [29]
The Results section (“Individual gene-level correspondence”; page unavailable) reports correlations of r = .85 between dried-blood-spot expression values and each comparator across 19,679 named transcripts. That supports strong correspondence, but a correlation of .85 is not a measurement of 85% concordance. The Discussion also notes greater variability in some dried-blood-spot analyses, qualifying the broad claim that the technology is reliable. (LLM, conf=0.86)
Experimental — accuracy not yet measuredDried blood spot technology is feasible for field-based gene expression studies, and using DBS yields more representative samples than clinic-based designs.
“DBS technology has been shown to be feasible in field-based studies of gene expression and use of DBS supports more representative samples than are possible with clinic-based research designs [29].”
From Living Well: Protocol for a web-based program to improve quality of life in rural and urban ovarian cancer survivors (2024) · cites this paper as [29]
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- Authors
- McDade, T. W., M. Ross, K., L. Fried, R., Arevalo, J. M. G., Ma, J., Miller, G. E., & Cole, S. W.
- Affiliations
- Canadian Institute for Advanced Research (CA)
- University of California, Los Angeles (US)
- Northwestern University (US)
- Corresponding author
- McDade, Thomas W.
- Venue
- Biodemography and Social Biology
- Publisher
- Informa UK Limited
- Published
- 2016-05-03
- Volume
- 62
- Issue
- 2
- Pages
- 182-197
- ISSN
- 1948-5565 (ISSN-L)
- 1948-5573
- PMC
- PMC4972449
- OpenAlex
- W2461654689
- Cited by
- 55
- References
- 46
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 9 · 2023: 4 · 2022: 10 · 2021: 6 · 2020: 4 · 2019: 6 · 2018: 6 · 2017: 1 · 2016: 1
- FWCI
- 2.42
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biodemography and Social Biology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (P30 AG017265)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health (1R01HD074765)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Molecular Biology Techniques and Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- dried blood spots, genome-wide transcriptional profiling, gene expression, peripheral blood mononuclear cells, African Americans, racial differences, type I interferon signaling, monocytes, natural killer cells, social gradient in health, transcriptome dynamics
- MeSH terms
- Adolescent, Adult, Aged, Black or African American, Chicago, Female, Humans, Leukocytes, Mononuclear, Male, Middle Aged, RNA, Transcription Factors, Gene Expression, Genome, Human, Body Mass Index, Phlebotomy, Computational Biology, White People, Dried Blood Spot Testing
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