Cruz-Romero Cinthia, Guo Abra, Bradley William F, Vicentini Joao R T, Yajnik Vijay, Gee Michael S
Department of Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
University of Virginia School of Medicine, Charlottesville, Virginia, USA.
J Magn Reson Imaging. 2021 Jan;53(1):132-138. doi: 10.1002/jmri.27250. Epub 2020 Jun 18.
Patient genetic polymorphism is associated with Crohn's clinical behavior; however, its association with magnetic resonance enterography (MRE) imaging appearance is not known.
To analyze a set of known Crohn's disease (CD)-related single nucleotide polymorphisms for associations with MRE imaging phenotype and frequency of imaging.
Retrospective.
54 patients (mean age 40 years; 32 females and 22 males) with established CD from 2009 to 2016 who underwent baseline MRE and genetic testing for the presence of 168 single nucleotide polymorphisms (SNPs) potentially associated with inflammatory bowel disease.
FIELD STRENGTH/SEQUENCE: 1.5T or 3T clinical scanners, standard MRE clinical pulse sequences, including T -weighted single-shot fast spin echo, balanced steady-state free precession, T -weighted fast spin echo fat-suppressed, and T -weighted fat-suppressed pre- and postcontrast imaging.
Three readers (all body imaging fellowship-trained radiologists) independently evaluated all imaging for the presence or absence of active disease and penetrating complications. Date of onset and frequency of endoscopies and cross-sectional imaging (CSI) were recorded. Disease behavior and distribution were categorized according to the Vienna and Montreal classifications, respectively.
Student's t-test and Fisher's exact test were used to assess significance of continuous and categorical variables, respectively. A hidden Markov model statistical knockoff approach was also applied for the analysis of genetic-imaging associations, with corrected P < 0.05 considered significant.
MRE demonstrated active bowel inflammation in 42 (78%) patients, strictures in 13 (28%), and fistulae in 13 (28%). The SNP rs1292053 (RBS6KB1) was highly associated with small bowel inflammation and luminal narrowing, with observed frequencies of association 0.66 and 0.39, respectively (P = 0.001). rs6062504 (Decoy receptor 3) was associated with lower age of onset (P = 0.012), higher proportion of early disease onset patients (P = 0.012), and higher average number of CSI/year (P = 0.014).
This study demonstrated significant associations between CD genotype and MRE phenotype and frequency of cross-sectional imaging.
3 TECHNICAL EFFICACY STAGE: 2.
患者基因多态性与克罗恩病的临床行为相关；然而，其与磁共振肠造影（MRE）影像表现的关联尚不清楚。
分析一组已知的克罗恩病（CD）相关单核苷酸多态性，以探讨其与MRE影像表型及影像检查频率的关联。
回顾性研究。
2009年至2016年间确诊为CD的54例患者（平均年龄40岁；女性32例，男性22例），这些患者接受了基线MRE检查及168个可能与炎症性肠病相关的单核苷酸多态性（SNP）的基因检测。
场强/序列：1.5T或3T临床扫描仪，标准MRE临床脉冲序列，包括T加权单次激发快速自旋回波、稳态自由进动平衡序列、T加权脂肪抑制快速自旋回波以及T加权脂肪抑制增强前后成像。
三位阅片者（均为接受过体部影像专科培训的放射科医生）独立评估所有影像，判断是否存在活动性疾病及穿透性并发症。记录发病日期、内镜检查及横断面成像（CSI）的频率。疾病行为和分布分别根据维也纳和蒙特利尔分类进行归类。
分别采用学生t检验和费舍尔精确检验评估连续变量和分类变量的显著性。还应用了隐马尔可夫模型统计仿样方法分析基因与影像的关联，校正P<0.05被视为具有显著性。
MRE显示42例（78%）患者存在活动性肠道炎症，13例（28%）有狭窄，13例（28%）有瘘管形成。SNP rs1292053（RBS6KB1）与小肠炎症和管腔狭窄高度相关，观察到的关联频率分别为0.66和0.39（P = 0.001）。rs6062504（诱饵受体3）与发病年龄较低（P = 0.012）、早期发病患者比例较高（P = 0.012）以及每年平均CSI次数较多（P = 0.014）相关。
本研究表明CD基因型与MRE表型及横断面成像频率之间存在显著关联。
3级 技术效能阶段：2级
