The importance of C1236T polymorphism in the ABCB1/MDR1 gene in assessment of susceptibility to inflammatory bowel diseases in the Polish population

Abstract

Introduction: It has been suggested that polymorphism in the ABCB1/MDR1 gene, which encodes P-glycoprotein (P-gp), may be involved in the development of inflammatory bowel diseases (IBD). One of the ABCB1/MDR1 gene polymorphisms that potentially influence the P-gp protection against xenobiotics is the C1236T mutation. Aim: To evaluate whether the C1236T polymorphism is related to higher predisposition towards development of IBD, including ulcerative colitis (UC) and Crohn's disease (CD), in a Polish population. Material and methods: This retrospective study involved a total of 155 individuals of Caucasian origin (85 patients with IBD and 70 healthy volunteers) from central Poland. The C1236T polymorphism was analyzed by using the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method. Results: Our results showed that odds ratios (ORs) for disease development (IBD, UC) were elevated in the 1236CT genotype carriers and equaled 1.26 for IBD and 1.58 for UC. In individuals with the variant 1236T allele respective ORs equaled 1.08 for IBD, 1.11 for UC, and 1.05 for CD. The observed differences in both genotype and allele frequencies were not significant. Conclusions: In this study the C1236T polymorphism in the ABCB1/MDR1 gene has been shown not to be a relevant factor that may predispose towards inflammatory bowel diseases in a Polish population. A lack of relationship between the diseases and polymorphism of the gene for P-glycoprotein confirms the complexity of IBD pathogenesis.