Genome-Wide Profiling of RNA from Dried Blood Spots: Convergence with Bioinformatic Results Derived from Whole Venous Blood and Peripheral Blood Mononuclear Cells

ABSTRACT

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.

Acknowledgements

We thank the UCLA Neuroscience Genomics Core Laboratory for assay services. The contents of this article are solely the responsibility of the authors and do not necessarily represent the official views of the National Institutes of Health.

Funding

This project was supported by Grant Number 1R01HD074765 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and P30 AG017265 from the National Institute of Aging of the National Institutes of Health.

Additional information

Funding

This project was supported by Grant Number 1R01HD074765 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and P30 AG017265 from the National Institute of Aging of the National Institutes of Health.