RGD Reference Report - Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis. - Rat Genome Database

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

Authors: Potocnik, U  Ferkolj, I  Glavac, D  Dean, M 
Citation: Potocnik U, etal., Genes Immun. 2004 Nov;5(7):530-9.
RGD ID: 1598568
Pubmed: PMID:15505619   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.gene.6364123   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ABCB1HumanCrohn's disease susceptibilityIAGP  RGD 
Abcb1aRatCrohn's disease susceptibilityISOABCB1 (Homo sapiens) RGD 
Abcb1aMouseCrohn's disease susceptibilityISOABCB1 (Homo sapiens) RGD 
ABCB1Humanulcerative colitis susceptibilityIAGP  RGD 
Abcb1aRatulcerative colitis susceptibilityISOABCB1 (Homo sapiens) RGD 
Abcb1aMouseulcerative colitis susceptibilityISOABCB1 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Abcb1a  (ATP binding cassette subfamily B member 1A)

Genes (Mus musculus)
Abcb1a  (ATP-binding cassette, sub-family B member 1A)

Genes (Homo sapiens)
ABCB1  (ATP binding cassette subfamily B member 1)

Objects referenced in this article
Gene Abcb1b ATP-binding cassette, sub-family B member 1B Mus musculus
Gene Abcb1b ATP-binding cassette, sub-family B member 1B Rattus norvegicus

Additional Information