Longitudinal monitoring of gene expression in ultra-low-volume blood samples self-collected at home

Clin Exp Immunol. 2017 May;188(2):226-233. doi: 10.1111/cei.12916. Epub 2017 Mar 2.

Abstract

Blood transcriptional profiles could serve as biomarkers of clinical changes in subjects at-risk for or diagnosed with diabetes. However, transcriptional variation over time is poorly understood due to the impracticality of frequent longitudinal phlebotomy in large patient cohorts. We have developed a novel transcriptome assessment method that could be applied to fingerstick blood samples self-collected by study volunteers. Fifteen μL of blood from a fingerstick yielded sufficient RNA to analyse > 176 transcripts by high-throughput quantitative polymerase chain reaction (PCR). We enrolled 13 subjects with type 1 diabetes and 14 controls to perform weekly collections at home for a period of 6 months. Subjects returned an average of 24 of 26 total weekly samples, and transcript data were obtained successfully for > 99% of samples returned. A high degree of correlation between fingerstick data and data from a standard 3 mL venipuncture sample was observed. Increases in interferon-stimulated gene expression were associated with self-reported respiratory infections, indicating that real-world transcriptional changes can be detected using this assay. In summary, we show that longitudinal monitoring of gene expression is feasible using ultra-low-volume blood samples self-collected by study participants at home, and can be used to monitor changes in gene expression frequently over extended periods.

Keywords: autoimmunity; diabetes; transcriptomics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers
  • Blood Specimen Collection*
  • Blood Volume*
  • Diabetes Mellitus, Type 1 / blood
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Gene Expression Profiling / methods*
  • Humans
  • Longitudinal Studies
  • Male
  • Phlebotomy
  • RNA / isolation & purification
  • Real-Time Polymerase Chain Reaction
  • Self Care
  • Young Adult

Substances

  • Biomarkers
  • RNA