Sapmaz Ayşegül, Ozen Karatayli Senem Ceren, Dağli Ulkü, Kiliç Z Mesut Yalin, Törüner Murat, Celik Yasemin, Ozkan Muhip, Soykan Irfan, Cetinkaya Hülya, Ulker Aysel, Ozden Ali, Bozdayi A Mithat
Institute of Biotechnology, University of Ankara, Ankara, Turkey.
Turk J Gastroenterol. 2008 Sep;19(3):168-73.
BACKGROUND/AIMS: Crohn's disease and ulcerative colitis are both chronic inflammatory disorders of the gastrointestinal tract, the main causes of which remain unknown. Crohn's disease and ulcerative colitis are characterized by cell-mediated immune response against the luminal bacteria. It is suggested that expression levels and function of P-glycoprotein, encoded by the MDR1 gene, are important for protection of the gut against xenobiotics and bacterial toxins. Therefore, the mutations of the MDR1 gene are thought to be related with the pathogenesis of inflammatory bowel disease. The aim of this study was to investigate the G2677T/A polymorphism in the MDR1 gene in Turkish patients with inflammatory bowel disease and a healthy control group.
In our study, the genotypes of endoscopically or histopathologically diagnosed Crohn's disease (n: 35; 14 F, 21 M) and ulcerative colitis (n: 82; 36 F, 46 M) patients and of 70 healthy individuals (39 F, 31 M) were compared. In the patient and control groups, polymerase chain reaction restriction fragment length polymorphism analysis was performed for two polymorphisms (G2677T and G2677A) of the MDR1 gene.
In this study, the frequency of alleles at position 2677 of the MDR1 gene, which has a triallelic polymorphism, was not found to be significantly different between the patient and the healthy control groups. Moreover, the 2677A allele was not detected in either the patient group or the healthy control group.
In this study, the G2677T/A polymorphism observed in the MDR1 gene was not found to be a risk factor for Crohn's disease or ulcerative colitis.
背景/目的：克罗恩病和溃疡性结肠炎均为胃肠道的慢性炎症性疾病，其主要病因尚不清楚。克罗恩病和溃疡性结肠炎的特征是针对肠腔细菌的细胞介导免疫反应。有人提出，由多药耐药基因1（MDR1）编码的P-糖蛋白的表达水平和功能对于保护肠道免受外源性物质和细菌毒素的侵害很重要。因此，MDR1基因突变被认为与炎症性肠病的发病机制有关。本研究的目的是调查土耳其炎症性肠病患者和健康对照组中MDR1基因的G2677T/A多态性。
在我们的研究中，比较了经内镜或组织病理学诊断的克罗恩病患者（n = 35；14名女性，21名男性）、溃疡性结肠炎患者（n = 82；36名女性，46名男性）以及70名健康个体（39名女性，31名男性）的基因型。在患者组和对照组中，对MDR1基因的两个多态性位点（G2677T和G2677A）进行了聚合酶链反应-限制性片段长度多态性分析。
在本研究中，发现MDR1基因第2677位具有三等位基因多态性的等位基因频率在患者组和健康对照组之间无显著差异。此外，在患者组和健康对照组中均未检测到2677A等位基因。
在本研究中，未发现MDR1基因中观察到的G2677T/A多态性是克罗恩病或溃疡性结肠炎的危险因素。
