4.7 Article

Assessment of the validity of a multigene analysis in the diagnostics of inflammatory bowel disease

Journal

JOURNAL OF INTERNAL MEDICINE
Volume 275, Issue 5, Pages 484-493

Publisher

WILEY-BLACKWELL
DOI: 10.1111/joim.12160

Keywords

colonic mucosal biopsy; Crohn's disease; diagnostics; gene expression; ulcerative colitis

Funding

  1. Danish Agency for Science, Technology and Innovation
  2. Vibeke Binder and Povl Riis's Fund
  3. Lundbeck Foundation

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ObjectivesThe findings of a previous multigene study indicated that the expression of a panel of seven specific genes had strong differential power regarding inflammatory bowel disease (IBD) versus non-IBD, as well as ulcerative colitis (UC) versus Crohn's disease (CD). This prospective confirmatory study based on an independent patient cohort from a national Danish IBD centre was conducted in an attempt to verify these earlier observations. Design, setting and participantsA total of 119 patients were included in the study (CD, UC and controls). Three mucosal biopsies were retrieved from the left side of the colon of each patient. RNA was extracted, and RT-PCR was performed to retain expression profiles from the seven selected genes. Expression data from the training set (18 CD, 20 UC and 20 controls) were used to build a classification model, using quadratic discriminant analysis, and data from the test set (20 CD, 21 UC and 20 controls) were used to test the validity of the model. ResultsThe present investigation did not confirm the previous observation that a panel of seven specific genes is able to distinguish between patients with CD and UC, whereas the discriminative power for IBD versus control subjects was substantiated. ConclusionOur results fail to demonstrate that the previously identified seven-gene classification model is able to discriminate between CD and UC but suggest that the gene panel merely discriminates between inflamed and noninflamed colonic tissue. Thus, a reliable and simple diagnostic tool is still warranted for optimal diagnosis and treatment of patients with IBD, especially the subgroup with unclassified disease.

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