Assessment of reliability and validity of IBD phenotyping within the national institutes of diabetes and digestive and kidney diseases (NIDDK) IBD genetics consortium (IBDGC)

被引:35
作者
Dassopoulos, Themistocles
Nguyen, Geoffrey C.
Bitton, Alain
Bromfield, Gillian P.
Schumm, L. Philip
Wu, Yahong
Elkadri, Abdul
Regueiro, Miguel
Siemanowski, Benjamin
Torres, Esther A.
Gregory, Federico J.
Kane, Sunanda V.
Harrell, Laura E.
Franchimont, Denis
Achkar, Jean-Paul
Griffiths, Anne
Brant, Steven R.
Rioux, John D.
Taylor, Kent D.
Duerr, Richard H.
Silverberg, Mark S.
Cho, Judy H.
Steinhart, A. Hillary
机构
[1] Mt Sinai Hosp, IBD Ctr, Toronto, ON M5G 1X5, Canada
[2] Johns Hopkins Univ, Meyerhoff Inflammatory Bowel Dis Ctr, Baltimore, MD USA
[3] Johns Hopkins Sch Med, Div Gastroenterol, Baltimore, MD USA
[4] McGill Univ, Ctr Hlth, Royal Victoria Hosp Site, Montreal, PQ, Canada
[5] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA
[6] Univ Pittsburgh, Med Ctr, Div Gastroenterol, Pittsburgh, PA USA
[7] Univ Puerto Rico, Sch Med, Dept Med, San Juan, PR 00936 USA
[8] Univ Chicago, Dept Med, Chicago, IL 60637 USA
[9] McGill Univ, Ctr Hlth, Montreal Gen Hosp, Montreal, PQ, Canada
[10] Cleveland Clin Fdn, Cleveland, OH 44195 USA
[11] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[12] Univ Montreal, Montreal Heart Inst, Montreal, PQ, Canada
[13] David Geffen UCLA Sch Med, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
[14] Univ Toronto, Dept Med, Toronto, ON, Canada
[15] Yale Univ, IBD Ctr, Sect Digest Dis, New Haven, CT USA
[16] Yale Univ, Dept Genet, New Haven, CT USA
关键词
Crohn's disease; ulcerative colitis; phenotype; classification; validation studies;
D O I
10.1002/ibd.20144
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
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 re viewed 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 (K) 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 (kappa = 0.82; 95% confidence interval [CI]: 0.71-0.92). Agreement for CD location was good for jejunal, ileal, colorectal, and perianal disease with K between 0.60 and 0.74 but was fair for esophagogastroduodenal (kappa = 0.36). Agreement for UC extent (kappa = 0.67; 95% CI: 0.48-0.85), and CD behavior (kappa = 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.
引用
收藏
页码:975 / 983
页数:9
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