Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks

Abstract

Background/Aim:Multidrug resistance 1 (MDR1) gene encodes for P-glycoprotein (P-gp), a transmembrane efflux pump transferring both exogenous and endogenous substrate from the cells. In the human gastrointestinal tract, P-gp is found in high concentrations on the epithelial cells of the colon and small intestine. It is hypothesized that the expression level of MDR1 gene is related to susceptibility of both forms of inflammatory bowel disease (IBD). The aim of this study was to investigate the association of C3435T Single Nucleotide Polymorphism in IBD patients with/without clinical symptoms in Iranian Azeri Turks.Settings and Design:A total of 116 patients with IBD and 92 healthy subjects were analyzed.Materials and Methods:We investigated the distribution of MDR1 C3435T polymorphism via polymerase chain reaction – Restriction Fragment Length Polymorphism technique.Statistical Analysis Used:All statistical analyses were calculated with the SPSS for Windows 16.0. The Fisher exact test was used to test for departure from Hardy-Weinberg equilibrium of the genotype frequencies (P > 0.05).Results:The data showed that IBD patient with homozygous variant carrying MDR1 3435 T/T genotype has elevated risk for development of routine IBD clinical symptoms like Abdominal pain (P = 0.005) and chronic Diarrhea (P = 0.013) compared with MDR1 3435 C/C homozygotes who has reduced risk for development of IBD symptoms.Conclusions:Our data showed that patients with MDR1 3435 T/T are more susceptible to the development of some routine IBD clinical symptoms (P < 0.05). This study suggests a protective role for the MDR1 3435 C/C versus MDR1 3435 T/Tgenotype and C versus T allele for the progression of IBD in this cohort.