الفهرس | Only 14 pages are availabe for public view |
Abstract Ulcerative colitis (UC) is a chronic disease that is characterized by diffuse inflammation of the mucosa of the colon and rectum. The main clinical symptom of UC is bloody diarrhea (da Silva et al., 2014). MDR1 gene is located in chromosome 7, it encodes P-gp, which is closely related to bowel diseases (Cao et al., 2015). The MDR1 gene contains over 50 SNPs, in which only C3435T and C1236T are synonymous mutations (Liu et al., 2008 and Cao et al., 2015). The present study investigated the clinical utility of the MDR1 gene (C3435T) in patients with UC. For this purpose, samples were collected from 50 patients diagnosed as UC and 50 age and sex- matched apparently healthy controls (group II). Patients were subclassified according to disease severity and according to the response to GC therapy. All individuals in the study were subjected to full history, general clinical examination, biopsy by sigmoidoscopy or full colonoscopy, general laboratory investigations and assay of MDR1 gene polymorphism C3435T by PCR amplification and restriction analysis. The study revealed: - MDR1 genotype (3435TT) and T allele could be a risk factor for developing UC. - The homozygous type (3435TT) was associated with increased disease severity compared to wild type (3435CC). - The homozygous type (3435TT) genotype was more frequently associated with GC non responders. In conclusion, the present study supports the hypothesis that SNP rs1045642 of MDR1 gene (C3435T) is involved in UC predisposition. In addition, the TT genotype and the T allele were associated with disease severity as well as no response to GC therapy. |