AI 中文总结
该研究纳入197例接受靶向治疗的IBD患者，分析4种细胞因子基因SNP与临床表型及治疗应答的关联，发现IL-10 rs1800896变异等位基因可预测患者12个月时的生化缓解，支持IBD个性化治疗
AI 中文摘要
背景：遗传因素，包括单核苷酸多态性（SNPs），可能调节炎症性肠病（IBD）患者的病程和治疗疗效。目的：本研究探讨细胞因子基因中的4种SNPs与IBD患者临床表型及分子靶向药物应答之间的关联。材料与方法：共纳入197例接受靶向治疗的IBD患者，其中142例为克罗恩病（CD），55例为溃疡性结肠炎（UC）。分析的SNPs包括TNF-α rs1800629（-308 G>A）、TGF-β rs1800471（10号密码子C>T）、IL-6 rs1800795（-174 G>C）和IL-10 rs1800896（-1082 G>A）。12个月时（T12）的生化应答定义为T12时C反应蛋白（CRP）<5.0 mg/L且粪便钙卫蛋白<250 μg/g，且未接受持续糖皮质激素治疗。结果：IL-6 rs1800795的C等位基因与确诊时年龄更小显著相关（p=0.049），而TNF-α rs1800629的A等位基因在CD患者中比UC患者更常见（p=0.036）。在符合方案分析纳入的134例患者中，41.0%在T12时达到生化缓解。IL-10 rs1800896变异等位基因与缓解相关（比值比OR=2.15，95%置信区间CI=1.03-4.44；p=0.041），且该关联在多变量分析中仍具有统计学意义（校正后OR=4.15，95%CI=1.49-11.56；p=0.007）。结论：细胞因子相关SNPs的基因分型或有助于识别具有不同疾病表型的IBD患者，并支持个性化治疗策略。
英文摘要
Background. Genetic factors, including single-nucleotide polymorphisms (SNPs), may modulate disease course and therapeutic efficacy in patients with inflammatory bowel disease (IBD). Aim. We investigated the association between four SNPs in cytokine genes and clinical phenotype as well as the response to molecular-targeted drugs in patients with IBD. Materials and Methods. A total of 197 IBD patients (142 Crohn's disease [CD], 55 ulcerative colitis [UC]) undergoing targeted treatment were enrolled. The SNPs analyzed were TNF-alpha rs1800629 (-308 G>A), TGF-beta rs1800471 (codon 10 C>T), IL-6 rs1800795 (-174 G>C), and IL-10 rs1800896 (-1082 G>A). Biochemical response at 12 months (T12) was defined as CRP <5.0 mg/L and fecal calprotectin <250 microg/g at T12, in the absence of ongoing corticosteroid therapy. Results. The IL-6 rs1800795 C allele was significantly associated with a younger age at diagnosis (p=0.049), while the TNF-alpha rs1800629 A allele was more frequently observed in patients with CD than UC (p=0.036). Among 134 patients included in the per-protocol analysis, 41.0% achieved biochemical remission at T12. The IL-10 rs1800896 variant allele was associated with remission (OR 2.15, 95% CI 1.03-4.44; p=0.041), and the association remained significant in multivariable analysis (adjusted OR 4.15, 95% CI 1.49-11.56; p=0.007). Conclusions. Genotyping of cytokine-related SNPs may help identify patients with distinct disease phenotypes and support personalized treatment strategies in IBD.
Comments22 pages; 2 main tables and 1 main figure; supplementary tables and figure included. Pre-peer-reviewed author manuscript. The final article was published in Immunology, 2026, volume 177, issue 2, pages 432-438
Journal refImmunology. 2026;177(2):432-438
