Protein-Coding Genetic Variant Related to Crohn's Disease

A protein-coding genetic variation was identified that provides evidence for an abnormal immune response to bacteria in the digestive tract that may lead to the intestinal inflammation characteristic of Crohn's disease.

A team of scientists tested DNA samples from patients with Crohn's disease, comparing them with normal DNA samples. The investigators conducted a genome-wide association scan of approximately 20,000 ‘coding' genetic variants that are thought to produce functional changes at the protein level. A novel genetic variant in a gene was identified and verified that had not been previously associated with Crohn's disease. The protein-coding genetic variation identified provides evidence that an abnormal immune response to bacteria in the digestive tract may lead to the intestinal inflammation characteristic of Crohn's disease.

The University Hospital of the Christian-Albrechts University (Kiel, Germany), together with Applied Biosystems (Foster City, CA, USA), developed the methods that led to the identification of the novel genetic variant. The collaboration led to the discovery of another piece of the genetic puzzle that may predispose humans to Crohn's disease, demonstrating a discovery pipeline that can be applied to other common disorders. Applied Biosystems single nucleotide polymorphisms (SNPs) genotyping system and other Applied Biosystems technologies including the AB 3730 genetic analyzer and TaqMan SNP genotyping assays were used for the study.

The editors of Bio-IT [Information Technology] World honored Applied Biosystems and Christian-Albrechts University with a Bio-IT World 2008 Best Practices Award for Basic Research R&D.

Bio-IT World's Best Practices Award program, which was established in 2003, recognizes teams for their novel and innovative use of technology to improve the efficiency and economics of R&D, drug discovery, clinical research, and trials. The award program is meant to bring broader awareness to the life science field's most innovative best practices and encourage the sharing of information among the scientific community.

The results of this collaboration were published in the February 2007 issue of the journal Nature Genetics. In addition, Bio-IT World plans to publish more information about this study.


Related Links:
Christian-Albrechts University
Applied Biosystems