title: Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene.
abstract: BACKGROUND
  Significant evidence suggests that a promoter polymorphism within the gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1.
  
  
  METHODS
  The studied population consisted of 484 Caucasians with IBD, 144 population controls, and 348 non-IBD-affected first-degree relatives of IBD patients. IBD subjects were re-categorized at the sub-disease phenotypic level to characterize possible SLC11A1 genotype-phenotype correlations. Polymorphic markers were amplified from germline DNA and typed using gel electrophoresis. Genotype-phenotype correlations were defined using case-control, haplotype, and family-based association studies.
  
  
  RESULTS
  This study did not provide compelling evidence for SLC11A1 disease association; most significantly, there was no apparent evidence of SLC11A1 promoter allele association in the studied Crohn's disease population.
  
  
  CONCLUSIONS
  Our results therefore refute previous studies that have shown SLC11A1 promoter polymorphisms are involved in susceptibility to this form of IBD.
authors.affiliation: Digestive Surgery Research Laboratory, Price Institute for Surgical Research, Department of Surgery, University of Louisville School of Medicine, Louisville, KY 40292, USA. crawforn@mail.nih.gov
authors.forename: Nigel P S
authors.initials: NP
authors.lastname: Crawford
authors.forename: Maurice R
authors.initials: MR
authors.lastname: Eichenberger
authors.forename: Daniel W
authors.initials: DW
authors.lastname: Colliver
authors.forename: Robert K
authors.initials: RK
authors.lastname: Lewis
authors.forename: Gary A
authors.initials: GA
authors.lastname: Cobbs
authors.forename: Robert E
authors.initials: RE
authors.lastname: Petras
authors.forename: Susan
authors.initials: S
authors.lastname: Galandiuk
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1