Lee Bo-In, Choi Kyu-Yong, Lee Kang-Moon, Chung Woo-Chul, Kim Byung-Wook, Choi Hwang, Cho Se-Hyun, Kang Hyong-Ju, Lee Jin-Sun, Kim Myung-Seok, Chae Hiun-Suk, Chun In-Sik
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Korean J Gastroenterol. 2006 Jan;47(1):22-9.
BACKGROUND/AIMS: Multidrug resistance 1 (MDR1) gene encodes P-glycoprotein in intestinal epithelium, which serves as a transmembrane efflux pump of various toxins. mdr1 knockout mice develop spontaneous colitis under specific pathogen free conditions. However, it is unclear that C3435T polymorphism of MDR1 is related to ulcerative colitis. Other studies suggest MDR1 may have an important role in colorectal carcinogenesis. Thus, we evaluated whether MDR1 C3435T polymorphism is present in Korean and it is associated with inflammatory bowel disease or colorectal cancer.
The genotype distributions of the C3435T polymorphism were investigated by PCR-RFLP method in 94 patients with ulcerative colitis, 24 patients with Crohn's disease, 64 patients with colorectal cancer and each of gender-matched controls with equal numbers.
There was no significant difference in frequencies of 3435T allele and 3435TT genotype between patients with ulcerative colitis and controls (p=0.443, p=0.194). No significant difference was present in frequencies of 3435T allele and 3435TT genotype between patients with Crohn's disease and controls (p=0.378, p=1.000). There was neither significant difference in frequencies nor 3435T allele or 3435TT genotype between patients with colorectal cancer and controls (p=0.250, p=0.211). C3435T genotype was not associated with the age of onset or other clinical characteristics in patients with ulcerative colitis, Crohn's disease or colorectal cancer.
MDR1 C3435T polymorphism is also present in Korean and the dominant allele is C. However, there is no evidence that C3435T polymorphism of MDRI is associated to inflammatory bowel disease or colorectal cancer in Korean.
背景/目的：多药耐药1（MDR1）基因在肠道上皮细胞中编码P-糖蛋白，它作为各种毒素的跨膜外排泵。mdr1基因敲除小鼠在无特定病原体条件下会发生自发性结肠炎。然而，尚不清楚MDR1的C3435T多态性是否与溃疡性结肠炎相关。其他研究表明MDR1可能在结直肠癌发生中起重要作用。因此，我们评估了MDR1 C3435T多态性在韩国人中是否存在，以及它是否与炎症性肠病或结直肠癌相关。
采用PCR-RFLP方法研究了94例溃疡性结肠炎患者、24例克罗恩病患者、64例结直肠癌患者以及性别匹配的等量对照的C3435T多态性的基因型分布。
溃疡性结肠炎患者与对照之间3435T等位基因和3435TT基因型频率无显著差异（p = 0.443，p = 0.194）。克罗恩病患者与对照之间3435T等位基因和3435TT基因型频率无显著差异（p = 0.378，p = 1.000）。结直肠癌患者与对照之间3435T等位基因频率和3435TT基因型频率均无显著差异（p = 0.250，p = 0.211）。C3435T基因型与溃疡性结肠炎、克罗恩病或结直肠癌患者的发病年龄或其他临床特征无关。
MDR1 C3435T多态性在韩国人中也存在，优势等位基因为C。然而，没有证据表明韩国人中MDR1的C3435T多态性与炎症性肠病或结直肠癌相关。
