Variance component analysis of circulating miR-122 in serum from healthy human volunteers

PLoS One. 2019 Jul 26;14(7):e0220406. doi: 10.1371/journal.pone.0220406. eCollection 2019.

Abstract

Micro-RNA (miR)-122 is a promising exploratory biomarker for detecting liver injury in preclinical and clinical studies. Elevations in serum or plasma have been associated with viral and autoimmune hepatitis, non-alcoholic steatohepatitis (NASH), hepatocellular carcinoma, and drug-induced liver injury (DILI). However, these associations were primarily based upon population differences between the disease state and the controls. Thus, little is known about the variability and subsequent variance components of circulating miR-122 in healthy humans, which has implications for the practical use of the biomarker clinically. To address this, we set out to perform variance components analysis of miR-122 in a cohort of 40 healthy volunteers. Employing a quantitative real-time polymerase chain reaction (qRT-PCR) assay to detect miR-122 and other circulating miRNAs in human serum, the relative expression of miR-122 was determined using two different normalization approaches: to the mean expression of a panel of several endogenous miRNAs identified using an adaptive algorithm (miRA-Norm) and to the expression of an exogenous miRNA control (Caenorhabditis elegans miR-39). Results from a longitudinal study in healthy volunteers (N = 40) demonstrated high variability with 117- and 111-fold 95% confidence reference interval, respectively. This high variability of miR-122 in serum appeared to be due in part to ethnicity, as 95% confidence reference intervals were approximately three-fold lower in volunteers that identified as Caucasian relative to those that identified as Non-Caucasian. Variance analysis revealed equivalent contributions of intra- and inter-donor variability to miR-122. Surprisingly, miR-122 exhibited the highest variability compared to other 36 abundant miRNAs in circulation; the next variable miRNA, miR-133a, demonstrated a 45- to 62-fold reference interval depending on normalization approaches. In contrast, alanine aminotransferase (ALT) activity levels in this population exhibited a 5-fold total variance, with 80% of this variance due to inter-donor sources. In conclusion, miR-122 demonstrated higher than expected variability in serum from healthy volunteers, which has implications for its potential utility as a prospective biomarker of liver damage or injury.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers / blood*
  • Female
  • Genetic Heterogeneity
  • Healthy Volunteers
  • Humans
  • Longitudinal Studies
  • Male
  • MicroRNAs / blood*
  • Middle Aged
  • Prospective Studies
  • Racial Groups / genetics*
  • Real-Time Polymerase Chain Reaction / standards*
  • Reference Standards

Substances

  • Biomarkers
  • MIRN122 microRNA, human
  • MicroRNAs

Grants and funding

Funding for this study was provided by Genentech, Inc., a member of the Roche Group. All authors listed on this manuscript were employees of Genentech during the planning, experimentation, and writing phases of this manuscript. Hiroko Irimagawa is now a current employee of Theravance Biopharma. Theravance did not provide funding in any manner to this project/manuscript in regards to salaries, reagents, facilities, or other means during the preparation, data generation, or writing of this manuscript. The funding organization (e.g. Genentech, Inc.) provided support in the form of salaries, instrumentation, facilities, supplies, and other components of operations associated with this manuscript. Genentech, Inc., did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the “author contributions” section.