title: Crohn's disease and SLC11A1 promoter polymorphism.
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.
authors: Department of Gastroenterology, Rambam Medical Center, Haifa, Israel. i_chermesh@rambam.health.gov.il
authors: Irit
authors: I
authors: Chermesh
authors: Aviva
authors: A
authors: Azriel
authors: Michal
authors: M
authors: Alter-Koltunoff
authors: Rami
authors: R
authors: Eliakim
authors: Amir
authors: A
authors: Karban
authors: Ben Zion
authors: BZ
authors: Levi
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D007557:Israel; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1