Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Comment
  • Published:

Discovering transcriptional signatures of disease for diagnosis versus mechanism

Nature Reviews Immunology volume 18, pages 289–290 (2018)Cite this article

Subjects

Transcriptional signatures of disease can be used for diagnosis or to gain insight into disease mechanisms. This Comment article discusses the different sets of criteria that should be considered for the optimal design of investigations addressing these two purposes, using examples from the study of tuberculosis.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Berry, M. P. et al. An interferon-inducible neutrophil-driven blood transcriptional signature in human tuberculosis. Nature 466, 973–977 (2010).

    Article  CAS  Google Scholar 

  2. Maertzdorf, J. et al. Common patterns and disease-related signatures in tuberculosis and sarcoidosis. Proc. Natl Acad. Sci. USA 109, 7853–7858 (2012).

    Article  CAS  Google Scholar 

  3. Kaforou, M. et al. Detection of tuberculosis in HIV-infected and -uninfected African adults using whole blood RNA expression signatures: a case-control study. PLoS Med. 10, e1001538 (2013).

    Article  Google Scholar 

  4. Kim, M. J. et al. Caseation of human tuberculosis granulomas correlates with elevated host lipid metabolism. EMBO Mol. Med. 2, 258–274 (2010).

    Article  CAS  Google Scholar 

  5. Burel, J. G. et al. Transcriptomic analysis of CD4+ T cells reveals novel immune signatures of latent tuberculosis. J. Immunol. https://doi.org/10.4049/jimmunol.1800118 (2018).

    Article  CAS  Google Scholar 

  6. Roe, J. K. et al. Blood transcriptomic diagnosis of pulmonary and extrapulmonary tuberculosis. JCI Insight 1, e87238 (2016).

    Article  Google Scholar 

  7. Zak, D. E. et al. A blood RNA signature for tuberculosis disease risk: a prospective cohort study. Lancet 387, 2312–2322 (2016).

    Article  CAS  Google Scholar 

  8. Cliff, J. M. et al. Excessive cytolytic responses predict tuberculosis relapse after apparently successful treatment. J. Infect. Dis. 213, 485–495 (2016).

    Article  CAS  Google Scholar 

  9. Montoya, D. et al. IL-32 is a molecular marker of a host defense network in human tuberculosis. Sci. Transl Med. 6, 250ra114 (2014).

    Article  Google Scholar 

  10. Sweeney, T. E. et al. Genome-wide expression for diagnosis of pulmonary tuberculosis: a multicohort analysis. Lancet Respir. Med. 4, 213–224 (2016).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors thank M. Babor, M. Pomaznoy, N. Khan, A. Sette and C. S. Lindestam Arlehamn from the Department of Vaccine Discovery of La Jolla Institute for Allergy and Immunology for their contribution to the literature review on which this work is based.

Author information

Authors and Affiliations

  1. Department of Vaccine Discovery, La Jolla Institute for Allergy and Immunology, La Jolla, CA, USA

    Julie G. Burel & Bjoern Peters

Authors
  1. Julie G. Burel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bjoern Peters
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bjoern Peters.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Burel, J., Peters, B. Discovering transcriptional signatures of disease for diagnosis versus mechanism. Nat Rev Immunol 18, 289–290 (2018). https://doi.org/10.1038/nri.2018.26

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nri.2018.26

This article is cited by

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research