title: Disc degeneration-related clinical phenotypes.
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.
authors.affiliation: Faculty of Rehabilitation Medicine, University of Alberta, 2-50 Corbett Hall, Edmonton, AB, T6G 2G4, Canada, mc.battie@ualberta.ca.
authors.forename: Michele C
authors.initials: MC
authors.lastname: Battié
authors.forename: Aron
authors.initials: A
authors.lastname: Lazáry
authors.forename: Jeremy
authors.initials: J
authors.lastname: Fairbank
authors.forename: Stephen
authors.initials: S
authors.lastname: Eisenstein
authors.forename: Chris
authors.initials: C
authors.lastname: Heywood
authors.forename: Marco
authors.initials: M
authors.lastname: Brayda-Bruno
authors.forename: Péter Pál
authors.initials: PP
authors.lastname: Varga
authors.forename: Iain
authors.initials: I
authors.lastname: McCall
mesh_terms: D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007405:Intervertebral Disc Displacement / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013122:Spinal Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013130:Spinal Stenosis / Q000175:diagnosis