Two Genes Linked to Inflammatory Bowel Disease

Researchers have pinpointed mutations in two different genes that are linked to the likelihood of developing the inflammatory bowel diseases (IBDs) ulcerative colitis and Crohn's disease.

Investigators at Johns Hopkins University (Baltimore, MD, USA) mapped DNA samples from 235 families with IBD in which 131 had offspring with ulcerative colitis for evidence of a link between the disease and the NFKB1 gene. The NFKB1 gene encodes nuclear factor kappa B (NF-kappa B), a major transcription regulator of immune response, apoptosis, and cell-growth control genes. They reported in the January 1, 2004, issue of Human Molecular Genetics that one of six variants of NFKB1 was linked to increased risk of ulcerative colitis and that this deletion variant was significantly increased in the 131 ulcerative colitis offspring.

A second study, published in the December 2003 issue of the American Journal of Human Genetics, described the genetic mapping of 1,118 individuals, including 558 patients with IBD and 329 families in which at least one person had the disease. The investigators found a clear association between IBD and the MDR1 gene.

"Our greatest hope is that by identifying the gene abnormalities associated with inflammatory bowel disease, we will be able to figure out how they contribute to causing disease and then interfere with that process to stop the disease in its tracks,” said senior author Dr. Steven Brant, associate professor of medicine at Johns Hopkins University. "Taken together, these new discoveries combine with the original NOD2 gene discovery and will hopefully lead to ways to intervene and possibly prevent IBD from occurring.”



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