Abstract
BackgroundInflammatory bowel disease (IBD) is a chronic disease of unknown etiology in which genetic factors contribute to development of disease. Single nucleotide polymorphisms (SNPs) in multidrug resistance 1 (MDR1) gene encoding transporter P-glycoprotein have been associated with IBD, but their role in disease susceptibility remains unclear. Therefore, the aim of this study was to investigate the association of three MDR1 polymorphisms, C1236T (rs1128503), G2677T/A (rs2032582) and C3435T (rs1045642), with Serbian IBD patients.MethodsA total of 206 IBD patients, 107 Crohn's disease (CD) and 99 ulcerative colitis (UC), and 255 healthy controls were included in the study. All subjects were genotyped using TaqMan SNP genotyping assays. Comparisons between the groups were performed using the Pearson Chi-square test. False discovery rate according to Benjamini-Hochberg procedure was applied to adjust for multiple comparisons.ResultsCarriers of T allele of all three MDR1 SNPs were more common in UC patients compared to healthy controls, suggesting predisposing role of T allele of these SNPs in UC pathogenesis. Consistently, TT genotype of C1236T and TTT haplotype were also found more frequently in UC patients. On the other hand, C allele and CC genotype of C1236T and C3435T, as well as G allele and GG genotype of G2677T/A were more frequent in healthy subjects, implying protective role of these variants in UC. Likewise, CGC haplotype and CGC/CGC diplotype were more frequent in controls. Contrary to UC, no statistical difference was observed between CD patients and controls in any of the SNPs analyzed.ConclusionMDR1 gene variants and haplotypes were associated with UC in Serbian IBD patients, further supporting their potential role in susceptibility to UC.
Highlights
Inflammatory bowel disease (IBD) with its major forms, ulcerative colitis (UC) and Crohn’s disease (CD), is a chronic, relapsing, lifelong disorder of the gastrointestinal (GI) tract
Carriers of T allele of all three multidrug resistance 1 (MDR1) SNPs were more common in UC patients compared to healthy controls, suggesting predisposing role of T allele of these SNPs in UC pathogenesis
We found that the carriers of T allele of all three SNPs were more frequent in UC patients than in healthy controls suggesting predisposing role of T variants of these SNPs in UC pathogenesis in our patients
Summary
Inflammatory bowel disease (IBD) with its major forms, ulcerative colitis (UC) and Crohn’s disease (CD), is a chronic, relapsing, lifelong disorder of the gastrointestinal (GI) tract. Linkage studies in families clearly emphasize the importance of genetic factors to disease development. Between 5 and 23% of patients with IBD have an affected firstdegree relative, with up to 25% chance that families with CD have members with UC and vice versa, which is consistent with the hypothesis that some risk gene alleles are common to both disorders, while other susceptibility genes may be unique either to UC or CD [3, 4]. Inflammatory bowel disease (IBD) is a chronic disease of unknown etiology in which genetic factors contribute to development of disease. Single nucleotide polymorphisms (SNPs) in multidrug resistance 1 (MDR1) gene encoding transporter P-glycoprotein have been associated with IBD, but their role in disease susceptibility remains unclear. The aim of this study was to investigate the association of three MDR1 polymorphisms, C1236T (rs1128503), G2677T/A (rs2032582) and C3435T (rs1045642), with Serbian IBD patients
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
