Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland.
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Medicina (Kaunas). 2024 Jul 31;60(8):1243. doi: 10.3390/medicina60081243.
Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), often necessitates long-term treatment and hospitalizations and also may require surgery. The ( rs3197999 polymorphism is strongly associated with the risk of IBD but its exact clinical correlates remain under investigation. We aimed to characterize the relationships between the rs3197999 genotype and the clinical characteristics in children and adolescents with IBD within a multi-center cross-sectional study. Clinical data included serum C-reactive protein (CRP), albumin, activity indices (PUCAI, PCDAI), anthropometric data, pharmacotherapy details, surgery, and disease severity. Genotyping for rs3197999 was carried out using TaqMan hydrolysis probes. The study included 367 pediatric patients, 197 with Crohn's disease (CD) (40.6% female; a median age of 15.2 years [interquartile range 13.2-17.0]) and 170 with ulcerative colitis (UC) (45.8% female; a median age of 15.1 years [11.6-16.8]). No significant relationships were found between genotypes and age upon first biologic use, time from diagnosis to biological therapy introduction, PUCAI, PCDAI, or hospitalizations for IBD flares. However, in IBD, the height Z-score at the worst flare was negatively associated with the CC genotype ( = 0.016; CC: -0.4 [-1.2-0.4], CT: -0.1 [-0.7-0.8], TT: 0.0 [-1.2-0.7)]). The TT genotype was associated with higher C-reactive protein upon diagnosis ( = 0.023; CC: 4.3 mg/dL [0.7-21.8], CT 5.3 mg/dL [1.3-17.9], TT 12.2 mg/dL [3.0-32.9]). This study identified links between rs3197999 and the clinical characteristics of pediatric IBD: height Z-score and CRP. Further studies of the associations between genetics and the course of IBD are still warranted, with a focus on more extensive phenotyping.
炎症性肠病（IBD）包括克罗恩病（CD）和溃疡性结肠炎（UC），通常需要长期治疗和住院治疗，并且可能需要手术。rs3197999 多态性与 IBD 的风险密切相关，但确切的临床相关性仍在研究中。我们旨在通过一项多中心横断面研究，描述 rs3197999 基因型与儿童和青少年 IBD 临床特征之间的关系。临床数据包括血清 C 反应蛋白（CRP）、白蛋白、活动指数（PUCAI、PCDAI）、人体测量数据、药物治疗细节、手术和疾病严重程度。rs3197999 基因分型采用 TaqMan 水解探针法进行。该研究纳入了 367 名儿科患者，其中 197 名患有克罗恩病（CD）（40.6%为女性；中位年龄为 15.2 岁[四分位间距 13.2-17.0]），170 名患有溃疡性结肠炎（UC）（45.8%为女性；中位年龄为 15.1 岁[11.6-16.8]）。首次使用生物制剂时的年龄、从诊断到生物治疗开始的时间、PUCAI、PCDAI 或 IBD 发作住院次数与基因型之间无显著相关性。然而，在 IBD 中，病情最严重时的身高 Z 评分与 CC 基因型呈负相关（ = 0.016；CC：-0.4[-1.2-0.4]，CT：-0.1[-0.7-0.8]，TT：0.0[-1.2-0.7]）。TT 基因型与诊断时的 CRP 升高相关（ = 0.023；CC：4.3mg/dL[0.7-21.8]，CT 5.3mg/dL[1.3-17.9]，TT 12.2mg/dL[3.0-32.9]）。本研究确定了 rs3197999 与儿科 IBD 临床特征之间的联系：身高 Z 评分和 CRP。需要进一步研究遗传与 IBD 病程之间的关系，重点是更广泛的表型分析。
