NEW YORK (Reuters Health) - Variants in genes for a cation transporter and a scaffolding protein are associated with an increased risk of inflammatory bowel disease, according to findings from two studies published in the April 11th online issue of Nature Genetics.
In the first study, Dr. Katherine A. Siminovich, from the University of Toronto, and colleagues re-sequenced a genetic region on chromosome 5 previously linked with Crohn’s disease. In doing so, the researchers discovered 10 new genetic variants--2 of which were predicted to have functional consequences.
The two variants occurred in the organic cation transporter (OCTN) gene cluster, the investigators note. Further testing revealed that the variants did, in fact, affect the transcription and transporter functions of OCTN. Moreover, the variants seemed to work with CARD15, another gene tied to inflammatory bowel disease, to raise the risk of Crohn’s disease.
“Our discovery provides a basis for diagnostic tests for Crohn’s disease risk and identifies the OCTNs as potential targets for therapeutic interventions,” Dr. Siminovich’s team concludes.
In the second study, Dr. Stefan Schreiber, from Christian-Albrechts-University in Kiel, Germany, and associates re-analyzed a region on chromosome 10 that has been associated with inflammatory bowel disease. This led to the identification of variants in the gene for a scaffolding protein called DLG5.
Two distinct DLG5 haplotypes were found that were associated with an increased risk of inflammatory bowel disease, in general, and Crohn’s disease, in particular. As in the first study, DLG5 seemed to interact with CARD15 to influence the risk of disease.
“Future studies in diverse and very large samples are needed to evaluate the population relevance of variants in DLG5 in this chromosomal region,” the researchers note.
Nat Genet 2004;April 11th online issue:000-000.
MeSH Headings:Colitis, Ulcerative: Polymorphism, Single NucleotideCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
