In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), an international research team has identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
A research team led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, says that the findings advance the scientific understanding of how IBD develops. "This is an evolving story of discovering what genes tell us about the disease," said Robert N. Baldassano, M.D., a co-first author of the study and director of the Center for Pediatric Inflammatory Bowel Disease at Children's Hospital. "Pinpointing how specific genes act on biological pathways provides a basis for ultimately personalizing medicine to an individual's genetic profile."
The study appears online today in Nature Genetics.
IBD is a painful, chronic inflammation of the gastrointestinal tract, affecting about two million children and adults in the United States. Of that number, about half suffer from Crohn's disease, which can affect any part of the GI tract, and half have ulcerative colitis, which is limited to the large intestine.
Most gene analyses of IBD have focused on adult-onset disease, but the Center for Applied Genomicsone of the world's largest pediatric genotyping programsat Children's Hospital has concentrated on childhood-onset IBD, which tends to be more severe than adult-onset disease. The researchers performed a genome-wide association study on DNA from over 3,400 children and adolescents with IBD, plus nearly 12,000 genetically matched control subjects, all recruited through international collaborations in North America and Europe.
In a genome-wide association study, automated genotyping tools scan the entire human genome seeking gene variants th
|Contact: John Ascenzi|
Children's Hospital of Philadelphia