Unbiased Identification of Blood-based Biomarkers for Pulmonary Tuberculosis by Modeling and Mining Molecular Interaction Networks

EBioMedicine. 2017 Feb:15:112-126. doi: 10.1016/j.ebiom.2016.12.009. Epub 2016 Dec 21.

Abstract

Efficient diagnosis of tuberculosis (TB) is met with multiple challenges, calling for a shift of focus from pathogen-centric diagnostics towards identification of host-based multi-marker signatures. Transcriptomics offer a list of differentially expressed genes, but cannot by itself identify the most influential contributors to the disease phenotype. Here, we describe a computational pipeline that adopts an unbiased approach to identify a biomarker signature. Data from RNA sequencing from whole blood samples of TB patients were integrated with a curated genome-wide molecular interaction network, from which we obtain a comprehensive perspective of variations that occur in the host due to TB. We then implement a sensitive network mining method to shortlist gene candidates that are most central to the disease alterations. We then apply a series of filters that include applicability to multiple publicly available datasets as well as additional validation on independent patient samples, and identify a signature comprising 10 genes - FCGR1A, HK3, RAB13, RBBP8, IFI44L, TIMM10, BCL6, SMARCD3, CYP4F3 and SLPI, that can discriminate between TB and healthy controls as well as distinguish TB from latent tuberculosis and HIV in most cases. The signature has the potential to serve as a diagnostic marker of TB.

Keywords: Biomarkers; Computational medicine; Diagnostics; Network biology; Tuberculosis.

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers*
  • Case-Control Studies
  • Cluster Analysis
  • Coinfection
  • Computational Biology* / methods
  • Data Mining* / methods
  • Female
  • Gene Expression Profiling
  • Gene Regulatory Networks
  • HIV Infections / immunology
  • HIV Infections / virology
  • Host-Pathogen Interactions
  • Humans
  • Male
  • Middle Aged
  • Models, Biological*
  • Mycobacterium tuberculosis*
  • Prognosis
  • Protein Interaction Mapping
  • Protein Interaction Maps
  • Reproducibility of Results
  • Signal Transduction
  • Tuberculosis, Pulmonary / blood*
  • Tuberculosis, Pulmonary / diagnosis
  • Tuberculosis, Pulmonary / genetics
  • Tuberculosis, Pulmonary / metabolism
  • Young Adult

Substances

  • Biomarkers