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Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis

  1. Author:
    Potocnik, U.
    Ferkolj, I.
    Glavac, D.
    Dean, M.

  2. Author Address

    NCI, NIH, FCRDC, Lab Genom Divers, Ft Detrick, MD 21702 USA. Univ Ljubljana, Fac Med, Inst Pathol, Genet Mol Lab, Ljubljana, Slovenia. Univ Med Ctr, Div Internal Med, Dept Gastroenterol, Ljubljana, Slovenia Dean, M, NCI, NIH, FCRDC, Lab Genom Divers, Bld 560,Rm 21-18, Ft Detrick, MD 21702 USA
    1. Year: 2004
    2. Date: NOV
  2. Journal: Genes and Immunity
    1. 5
    2. 7
    3. Pages: 530-539
  4. Type of Article: Article
  1. Abstract:

    We used coding and noncoding polymorphisms evenly spaced across the ABCB1/MDR1 gene to perform association analysis in Slovenian patients with inflammatory bowel diseases and to obtain haplotype structure and patterns of linkage disequilibrium (LD) in the MDR1 gene. A disease association study was performed in 307 IBD patients, including 144 patients with ulcerative colitis (UC) and 163 patients with Crohn's disease (CD), and 355 healthy controls. Here we report an association between MDR1 alleles, polymorphisms and haplotypes and refractory CD patients, who do not respond to standard therapy, including patients who develop fistulas. We also report an association with UC and MDR1 polymorphisms in a Slovenian population. Haplotypes significantly associated with diseases were defined by single-nucleotide polymorphisms (SNPs) in exons 12 (1236 C>A), 21(A893S), and 26 (3435 C>T). In addition, two intronic SNPs in LD with the disease haplotype, one in intron 13 (rs2235035) and another in intron 16 (rs1922242), were significantly associated with refractory Crohn (P=0.026, odds ratio (OR) 2.7 and P 0.025, OR 2.8, respectively), as well as with UC (P=0.006, OR 1.8 and P=0.026, OR 1.9, respectively). Our results suggest that MDR1 is a potential target for therapy in refractory CD patients and in patients with UC

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External Sources

  1. View record in Web of Science®
  2. WOS: 000224732900002

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