Assessment of reliability and validity of IBD phenotyping within the national institutes of diabetes and digestive and kidney diseases (NIDDK) IBD genetics consortium (IBDGC)
Assessment of reliability and validity of IBD phenotyping within the national institutes of diabetes and digestive and kidney diseases (NIDDK) IBD genetics consortium (IBDGC)
复制标题
DOI：
10.1002/ibd.20144
复制
发表时间：
2007-08-01
影响因子：
4.9
通讯作者：
Steinhart, A. Hillary
中科院分区：
文献类型：
--
作者：
Dassopoulos, Themistocles;Nguyen, Geoffrey C.;Steinhart, A. Hillary
背景资料：NIDDK IBD遗传学联盟（IBDGC）收集炎症性肠病（IBD）受试者的DNA和表型数据，为遗传研究提供资源。以前没有研究已经进行的可靠性和有效性的表型测定克罗恩病（CD）或溃疡性结肠炎（UC）使用原始记录。我们的目的是确定这些表型assessment.Methods的可靠性和有效性：30 IBD患者的去识别记录进行了审查，由2个表型每个中心使用一个标准的协议表型评估。每名表型分析师在相隔5个月的2次评估10张图表。可靠性表示为kappa（K）统计量。通过与共识衍生的“金标准”进行比较并通过生成受试者工作特征（ROC）curves.Results：诊断一致性极佳（kappa = 0.82; 95%置信区间[CI]：0.71-0.92），确定了性能特征。空肠、回肠、结直肠和肛周疾病的CD位置一致性良好，K在0.60和0.74之间，但食管胃十二指肠的一致性一般（kappa = 0.36）。UC程度（kappa = 0.67; 95% CI：0.48-0.85）和CD行为（kappa = 0.67; 95% CI：0.49-0.83）的一致性非常好。ROC曲线下面积大于0.84的诊断，CD的行为，UC的程度，回肠和结肠CD location.Conclusions：IBD表型分类使用标准的协议表现出非常好，优秀的内部和intrarater协议和有效性。这项研究强调了标准方案在产生可靠和有效的表型评估中的重要性。这些数据将有助于估计从IBD基因型-表型研究中进行推断时应考虑的表型错误分类率。
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.