Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2

✍ Scribed by Dr. Pieter C. F. Stokkers; Kees Huibregtse Jr.; A. C. Leegwater; Pieter H. Reitsma; Guido N. J. Tytgat; Sander J. H. Van Deventer

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 631 KB
• Volume: 6
• Category: Article
• ISSN: 1078-0998
• DOI: 10.1002/ibd.3780060205

✦ Synopsis

Genome scans have identified a region spanning 40 cM on the long arm of chromosome 12 as a susceptibility locus for inflammatory bowel disease (IBD). This locus contains several candidate genes for IBD, one of which is the gene for the natural resistance associated macrophage protein 2 (NRAMP2). This protein is a divalent cation transporter and is expressed in many cells and tissues. The putative role of this protein in innate immunity prompted us to investigate a possible relationship between NRAMP2 and IBD. We assessed the frequency of four restriction fragment length polymorphisms (IVS2+ 1 l N G , IVS4+44C/A, 1254T/C, and IVSlSExl6-16C/G) in a group of 155 Crohn's disease (CD) patients, 114 ulcerative colitis (UC) patients, and 189 healthy controls. Linkage analysis was performed in a group of 70 families with multiple members suffering from IBD. We searched for additional intragenic markers and mutations by sequence analysis of the natural resistanceassociated macrophage 2 gene of 33 CD patients, with a positive family history for IBD. We identified one novel restriction