RGD Reference Report - The -237C-->T promoter polymorphism of the SLC11A1 gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population. - Rat Genome Database

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The -237C-->T promoter polymorphism of the SLC11A1 gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population.

Authors: Zaahl, MG  Winter, TA  Warnich, L  Kotze, MJ 
Citation: Zaahl MG, etal., Int J Colorectal Dis. 2006 Jul;21(5):402-8. Epub 2005 Jul 30.
RGD ID: 5684952
Pubmed: PMID:16059695   (View Abstract at PubMed)
DOI: DOI:10.1007/s00384-005-0019-z   (Journal Full-text)

The purpose of this study was to assess the likelihood that variation in the promoter region of the solute carrier family 11 member 1 gene (SLC11A1) contributes to inflammatory bowel disease (IBD) susceptibility in the South African population. The study cohort included 102 IBD patients, 47 with Crohn's disease (CD) and 55 with ulcerative colitis, and 192 population-matched controls. Mutation analysis revealed two novel alleles for the 5'-(GT)n repeat polymorphism, t(gt)5ac(gt)5ac(gt)6ggcaga(g)6 (allele 8) and t(gt)5ac(gt)5ac(gt)8ggcaga(g)6 (allele 9), and one previously documented point mutation -237C-->T. A significantly decreased frequency of the -237C-->T promoter polymorphism was observed in the patient group with IBD (p<0.001) and CD (p<0.0006) compared with the population-matched control group. These findings may be related to previous in vitro studies, which demonstrated that the point mutation at nucleotide position -237 represents a functional polymorphism that affects regulation of the upstream 5'-(GT)n repeat polymorphism differentially upon iron loading. Our findings raise the possibility that iron dysregulation mediated by allelic effects of SLC11A1 may contribute to IBD susceptibility.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC11A1HumanCrohn's disease  IAGP DNA:point mutation:promoter:-237C>T (human)RGD 
Slc11a1MouseCrohn's disease  ISOSLC11A1 (Homo sapiens)DNA:point mutation:promoter:-237C>T (human)RGD 
Slc11a1RatCrohn's disease  ISOSLC11A1 (Homo sapiens)DNA:point mutation:promoter:-237C>T (human)RGD 
SLC11A1Humaninflammatory bowel disease  IAGP DNA:point mutation:promoter:-237C>T (human)RGD 
Slc11a1Mouseinflammatory bowel disease  ISOSLC11A1 (Homo sapiens)DNA:point mutation:promoter:-237C>T (human)RGD 
Slc11a1Ratinflammatory bowel disease  ISOSLC11A1 (Homo sapiens)DNA:point mutation:promoter:-237C>T (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