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Disc degeneration-related clinical phenotypes

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Abstract

The phenotype, or observable trait of interest, is at the core of studies identifying associated genetic variants and their functional pathways, as well as diagnostics. Yet, despite remarkable technological developments in genotyping and progress in genetic research, relatively little attention has been paid to the equally important issue of phenotype. This is especially true for disc degeneration-related disorders, and the concept of degenerative disc disease, in particular, where there is little consensus or uniformity of definition. Greater attention and rigour are clearly needed in the development of disc degeneration-related clinical phenotypes if we are to see more rapid advancements in knowledge of this area. When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). While both have advantages, it cannot be assumed that associated gene variants will be similarly relevant to both. Among other considerations are factors influencing phenotype identification, comorbidities that are often present, and measurement issues. Genodisc, the European research consortium project on disc-related clinical pathologies has adopted a strategy that will allow for the careful characterisation and examination of both the complex clinical phenotypes of interest and their components.

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Acknowledgments

Supported by Seventh Framework Programme Health-2007-A; Grant agreement no: 201626, and the Canada Research Chairs Program.

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Authors and Affiliations

  1. Faculty of Rehabilitation Medicine, University of Alberta, 2-50 Corbett Hall, Edmonton, AB, T6G 2G4, Canada

    Michele C. Battié

  2. National Center for Spinal Disorders, Budapest, Hungary

    Áron Lazáry & Péter Pál Varga

  3. Nuffield Orthopaedic Centre, Oxford University Hospitals, Oxford University, Oxford, UK

    Jeremy Fairbank

  4. Robert Jones and Agnes Hunt Orthopaedic Hospital, Keele University, Oswestry, Shropshire, UK

    Stephen Eisenstein & Iain McCall

  5. East Midlands Spine Limited, The Woodlands Hospital, Kettering, Northants, UK

    Chris Heywood

  6. IRCCS Istituto Ortopedico Galeazzi, Via R. Galeazzi 4, 20161, Milan, Italy

    Marco Brayda-Bruno

  7. Department of Public Health, University of Helsinki, Helsinki, Finland

    Michele C. Battié

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  1. Michele C. Battié
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  2. Áron Lazáry
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Correspondence to Michele C. Battié.

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Battié, M.C., Lazáry, Á., Fairbank, J. et al. Disc degeneration-related clinical phenotypes. Eur Spine J 23 (Suppl 3), 305–314 (2014). https://doi.org/10.1007/s00586-013-2903-5

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  • DOI: https://doi.org/10.1007/s00586-013-2903-5

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