title: MDR1 polymorphisms are associated with inflammatory bowel disease in a cohort of Croatian IBD patients.
abstract: BACKGROUND
  Inflammatory bowel diseases (IBD) are chronic diseases of unknown etiology and pathogenesis in which genetic factors contribute to development of disease. MDR1/ABCB1 is an interesting candidate gene for IBD. The role of two single nucleotide polymorphisms, C3435T and G2677T remains unclear due to contradictory results of current studies. Thus, the aims of this research were to investigate the association of MDR1 polymorphisms, C3435T and G2677T, and IBD.
  
  
  METHODS
  A total of 310 IBD patients, 199 Crohn's disease (CD) patients and 109 ulcerative colitis (UC) patients, and 120 healthy controls were included in the study. All subjects were genotyped for G2677T/A and C3435T polymorphism using RT-PCR. In IBD patients, review of medical records was performed and patients were phenotyped according to the Montreal classification.
  
  
  RESULTS
  Significantly higher frequency of 2677T allele (p=0.05; OR 1.46, 95% CI (1.0-2.14)) and of the 3435TT genotype was observed among UC patients compared to controls (p=0.02; OR 2.12; 95% CI (1.11-4.03). Heterozygous carriers for C3435T were significantly less likely to have CD (p=0.02; OR 0.58, 95% CI (0.36-0.91)). Haplotype analysis revealed that carriers of 3435T/2677T haplotype had a significantly higher risk of having UC (p=0.02; OR 1.55; 95% CI (1.06-2.28)).
  
  
  CONCLUSIONS
  MDR1 polymorphisms are associated with both CD and UC with a stronger association with UC.
authors.affiliation: Division of Gastroenterology and Hepatology, University Hospital Centre Zagreb, Zagreb, 10000, Croatia. marko.brinar@zg.t-com.hr
authors.forename: Marko
authors.initials: M
authors.lastname: Brinar
authors.forename: Silvija
authors.initials: S
authors.lastname: Cukovic-Cavka
authors.forename: Nada
authors.initials: N
authors.lastname: Bozina
authors.forename: Katja Grubelic
authors.initials: KG
authors.lastname: Ravic
authors.forename: Pave
authors.initials: P
authors.lastname: Markos
authors.forename: Agata
authors.initials: A
authors.lastname: Ladic
authors.forename: Marijana
authors.initials: M
authors.lastname: Cota
authors.forename: Zeljko
authors.initials: Z
authors.lastname: Krznaric
authors.forename: Boris
authors.initials: B
authors.lastname: Vucelic
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics*; D016001:Confidence Intervals; D017523:Croatia; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1
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