Adalı Gupse, Ersoy Tunalı Nagehan, Yorulmaz Elif, Tiryakioğlu Necip Ozan, Mungan Sibel Güray, Ulaşoğlu Celal, Yılmaz Enç Feruze, Tuncer İlyas
Department of Gastroenterology, İstanbul Medeniyet University School of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey.
Turk J Gastroenterol. 2017 Jul;28(4):254-259. doi: 10.5152/tjg.2017.17043.
BACKGROUND/AIMS: Ulcerative colitis (UC) and Crohn's disease are chronic inflammatory diseases. Genetic, immunologic, and microbial factors play an important role in their pathogenesis. Extracellular matrix protein 1 (ECM1), a gene related to mucosal barrier function, has been shown to be associated with UC. This study aims to determine the relationship between ECM1 gene rs3737240 single nucleotide polymorphism (SNP) and UC in a group of Turkish patients.
Ninety-four UC patients and 120 healthy controls were enrolled in the study. ECM1 gene rs3737240 SNP genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method.
TT genotype was significantly more common in UC patients than in the healthy control group [p=0.034; odds ratio (OR) 2.34; 95% confidence interval (CI) 1.04-5.25]. The presence of C allele significantly lowered the UC risk (p=0.034; OR 0.42; 95% CI 0.19-0.95). TT genotype was significantly associated with azathioprine use in UC patients (p=0.037; OR 3.0; 95% CI 1.04-8.65). The C allele significantly reduced the probability of azathioprine use in UC patients (p=0.037; OR 0.33 CI 95% 0.11-0.96). No relation was found between rs3737240 SNP genotype and the phenotypical characteristics of UC patients.
The TT genotype of ECM1 gene rs3737240 SNP significantly increased susceptibility for UC and azathioprine use in UC patients in a Turkish population.
背景/目的：溃疡性结肠炎（UC）和克罗恩病是慢性炎症性疾病。遗传、免疫和微生物因素在其发病机制中起重要作用。细胞外基质蛋白1（ECM1）是一种与黏膜屏障功能相关的基因，已被证明与UC有关。本研究旨在确定一组土耳其患者中ECM1基因rs3737240单核苷酸多态性（SNP）与UC之间的关系。
94例UC患者和120例健康对照者纳入本研究。采用聚合酶链反应-限制性片段长度多态性方法对ECM1基因rs3737240 SNP进行基因分型。
UC患者中TT基因型显著比健康对照组更常见[p = 0.034；优势比（OR）2.34；95%置信区间（CI）1.04 - 5.25]。C等位基因的存在显著降低了UC风险（p = 0.034；OR 0.42；95% CI 0.19 - 0.95）。TT基因型与UC患者使用硫唑嘌呤显著相关（p = 0.037；OR 3.0；95% CI 1.04 - 8.65）。C等位基因显著降低了UC患者使用硫唑嘌呤的概率（p = 0.037；OR 0.33，95% CI 0.11 - 0.96）。未发现rs3737240 SNP基因型与UC患者的表型特征之间存在关联。
在土耳其人群中，ECM1基因rs3737240 SNP的TT基因型显著增加了UC易感性以及UC患者使用硫唑嘌呤的可能性。
