Background-Linkage data have now identified several inflammatory bowel disease (IBD) susceptibility loci but these data have not been consistently replicated in independent studies. One potential explanation for this is the possibility that patients enrolled in such studies may have been erroneously classified with respect to their diagnosis. Aims-To determine the rate and type of misclassification in a large population of individuals referred for participation in an IBD genetics study and to examine the eVect of diagnostic misclassification on the power to detect linkage. Methods-The medical records of 1096 patients entered into an IBD genetics programme were reviewed using standardised diagnostic criteria. The original patient reported diagnoses were changed, if necessary, based on review, and the reasons for the change in diagnosis were recorded. To evaluate the eVect of misclassification on linkage results, simulations were created with Gensim and analysed using Genehunter to evaluate a model for IBD inheritance. Results-Sixty eight of 1096 (6.2%) individuals had a change in diagnosis from that originally reported. The majority of changes were patients with either Crohn's disease or ulcerative colitis who were determined not to have IBD at all. The principal reasons for changes to the original diagnosis were discordance between the patients' subjective reports of diagnosis and actual clinical history, endoscopic, or pathological results; a change in disease pattern over time; and insuYcient information available to confirm the original diagnosis. A 10% misclassification rate resulted in 28.4% and 40.2% loss of power to detect a true linkage when using a statistical model for a presumed IBD locus with s values of 1.8 and 1.3, respectively. Conclusions-Diagnostic misclassification occurs in patients enrolled in IBD genetic studies and frequently involves assigning the diagnosis of IBD to nonaVected individuals. Even low rates of diagnostic misclassification can lead to significant loss of power to detect a true linkage, particularly for loci with modest eVects as are likely to be found in IBD.
Beyond the intensity of their physical suffering, patients who seek counselling report a pattern of concern in which interpersonal and emotional concerns are prominent compared with those of out-patients who do not seek counselling. Clinicians should be aware of interpersonal concerns, which may increase the need for empathic support. Psychosocial interventions in IBD may be indicated without respect to psychiatric comorbidity.
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