Sahin S, Gulec D, Günay S, Cekic C
Clinical Biochemistry, Çiğli State Hospital, İzmir, Turkey.
Tissue Typing Laboratories, Health Sciences University, Tepecik Training and Research Hospital, İzmir, Turkey.
Gastroenterol Res Pract. 2021 Nov 15;2021:5538150. doi: 10.1155/2021/5538150. eCollection 2021.
The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar.
Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated.
DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed.
We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn's disease (CD)) and 60 healthy individuals as controls. The frequency of gene mutation was 26.7% ( = 12) and 14.5% ( = 8) for UC and CD, respectively. No relationship was found between gene mutation and the need for steroids, immunomodulators, and biologics ( = 0.446; = 0.708; > 0.999, resp.); however, in UC, the need for surgery in those with mutation ( = 0.018) and E148Q mutation alone was significant ( = 0.037).
The rate of gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. mutation as a modifier factor of IBD should be considered.
炎症性肠病（IBD）和家族性地中海热（FMF）的临床和病理特征相似。
在此，评估地中海热（MEFV）基因突变的频率及其对IBD结局的影响。
DNA序列分析检测IBD患者MEFV基因上的变异。评估突变与使用类固醇、免疫调节剂、生物制剂及手术需求之间的关系。
我们评估了100例IBD患者（55例溃疡性结肠炎（UC）和45例克罗恩病（CD））以及60名健康个体作为对照。UC和CD的基因突变频率分别为26.7%（n = 12）和14.5%（n = 8）。未发现基因突变与使用类固醇、免疫调节剂及生物制剂之间存在关联（分别为P = 0.446；P = 0.708；P>0.999）；然而，在UC中，有突变者的手术需求（P = 0.018）以及仅E148Q突变者的手术需求显著（P = 0.037）。
需要手术的UC患者中MEFV基因突变率较高。这些患者发作频繁且严重，表明突变与疾病严重程度相关。应考虑将MEFV突变作为IBD的一个修饰因素。
