RGD Reference Report - Inflammatory bowel disease is associated with a novel promoter polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene. - Rat Genome Database

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Inflammatory bowel disease is associated with a novel promoter polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene.

Authors: Kojima, Y  Kinouchi, Y  Takahashi, S  Negoro, K  Hiwatashi, N  Shimosegawa, T 
Citation: Kojima Y, etal., Tissue Antigens. 2001 Dec;58(6):379-84.
RGD ID: 5684968
Pubmed: PMID:11929588   (View Abstract at PubMed)

Inflammatory bowel diseases (IBD) representing both Crohn's disease and ulcerative colitis are characterized by chronic activation of macrophages. Natural resistance-associated macrophage protein 1 (NRAMP1) gene regulates macrophage activation of antimicrobial activity and has many pleiotropic effects on macrophage functions. To explore the role of the NRAMP1 gene in IBD susceptibility, we examined the promoter sequence of the NRAMP1 gene whose polymorphisms have been reported to influence the transcriptional activity of the NRAMP1 gene. One novel allele (allele 7) and two previously reported alleles (alleles 2 and 3) have been determined in a Japanese population. We investigated the association of IBD with these three alleles. The allele frequency of allele 7 was significantly higher in patients with Crohn's disease (11.1%) and ulcerative colitis (11.2%) than those in the healthy control group (4.5%) (Pc=0.015, Pc=0.018, respectively). Therefore, our findings suggest that the novel promoter polymorphism of the NRAMP1 gene may influence susceptibility to IBD in the Japanese population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Crohn's disease  IAGP 5684968DNA:polymorphism:promoter (human)RGD 
Crohn's disease  ISOSLC11A1 (Homo sapiens)5684968; 5684968DNA:polymorphism:promoter (human)RGD 
ulcerative colitis  IAGP 5684968DNA:polymorphism:promoter (human)RGD 
ulcerative colitis  ISOSLC11A1 (Homo sapiens)5684968; 5684968DNA:polymorphism:promoter (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc11a1  (solute carrier family 11 member 1)

Genes (Mus musculus)
Slc11a1  (solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1)

Genes (Homo sapiens)
SLC11A1  (solute carrier family 11 member 1)


Additional Information