Crohn's disease and SLC11A1 promoter polymorphism

Dig Dis Sci. 2007 Jul;52(7):1632-5. doi: 10.1007/s10620-006-9682-3. Epub 2007 Mar 24.

Abstract

Crohn's disease (CD) is a chronic multifactorial inflammatory disease. The prevalence of CD in Ashkenazi Jews is higher than in Sephardic Jews. SLC11A1, also known as Nramp1, is a divalent cation antiporter essential for the elimination of intraphagosomal pathogens. SLC11A1 has seven alleles in the promoter region and previous studies have suggested an association between CD and SLC11A1. The aim of this study was to check for a possible association between SLC11A1 promoter alleles and CD in Ashkenazi Jewish patients. DNA samples from healthy Ashkenazi donors and Ashkenazi CD patients were obtained and analyzed for SLC11A1 promoter polymorphism by PCR and DNA sequencing. One hundred thirty-one samples from healthy donors and 131 samples from CD patients were analyzed. Four alleles were identified: approximately 70% of the samples carried allele 3; approximately 30%, allele 2; approximately 1%, allele 1; and <1%, allele 5. There was no difference in allele frequencies between healthy donors and CD patients. No correlation was found between mutations in NOD2/CARD15 and the phenotype of CD. We conclude that the difference in SLC11A1 promoter polymorphism plays no role in CD in Ashkenazi Jews.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Cation Transport Proteins / genetics*
  • Colitis, Ulcerative / genetics
  • Crohn Disease / genetics*
  • Female
  • Humans
  • Israel
  • Male
  • Polymorphism, Genetic
  • Promoter Regions, Genetic*

Substances

  • Cation Transport Proteins
  • natural resistance-associated macrophage protein 1