Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD genetics consortium (IBDGC)

Themistocles Dassopoulos, Geoffrey C. Nguyen, Alain Bitton, Gillian P. Bromfield, L. Philip Schumm, Yahong Wu, Abdul Elkadri, Miguel Regueiro, Benjamin Siemanowski, Esther A. Torres, Federico J. Gregory, Sunanda V. Kane, Laura E. Harrell, Denis Franchimont, Jean Paul Achkar, Anne Griffiths, Steven R. Brant, John D. Rioux, Kent D. Taylor, Richard H. DuerrMark S. Silverberg, Judy H. Cho, A. Hillary Steinhart

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Background: The NIDDK IBD Genetics Consortium (IBDGC) collects DNA and phenotypic data from inflammatory bowel disease (IBD) subjects to provide a resource for genetic studies. No previous studies have been performed on the reliability and validity of phenotypic determinations in either Crohn's disease (CD) or ulcerative colitis (UC) using primary records. Our aim was to determine the reliability and validity of these phenotypic assessments. Methods: The de-identified records of 30 IBD patients were reviewed by 2 phenotypers per center using a standard protocol for phenotypic assessment. Each phenotyper evaluated 10 charts on 2 occasions 5 months apart. Reliability was expressed as the kappa (κ) statistic. Performance characteristics were determined by comparison to a consensus-derived "gold standard" and by generation of receiver operating characteristic (ROC) curves. Results: Agreement for diagnosis was excellent (κ = 0.82; 95% confidence interval [CI]: 0.71-0.92). Agreement for CD location was good for jejunal, ileal, colorectal, and perianal disease with κ between 0.60 and 0.74 but was fair for esophagogastroduodenal (κ = 0.36). Agreement for UC extent (κ = 0.67; 95% CI: 0.48-0.85), and CD behavior (κ = 0.67; 95% CI: 0.49-0.83) were very good. Area under the ROC curves was greater than 0.84 for diagnosis, CD behavior, UC extent, and ileal and colonic CD location. Conclusions: IBD phenotype classification using a standard protocol exhibited very good to excellent inter- and intrarater agreement and validity. This study highlights the importance of standard protocols in generating reliable and valid phenotypic assessments. The data will facilitate estimates of phenotyping misclassification rates that should be considered when making inferences from IBD genotype-phenotype studies.

Original languageEnglish (US)
Pages (from-to)975-983
Number of pages9
JournalInflammatory bowel diseases
Issue number8
StatePublished - Aug 2007
Externally publishedYes


  • Classification
  • Crohn's disease
  • Phenotype
  • Ulcerative colitis
  • Validation studies

ASJC Scopus subject areas

  • Immunology and Allergy
  • Gastroenterology


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