In what's described as the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease, the researchers said they also identified a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
The scientists, led by Dr. Hakon Hakonarson, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, say their findings advance the scientific understanding of how IBD develops.
"This is an evolving story of discovering what genes tell us about the disease," said Dr. Robert Baldassano, 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."
Most genetic analyses of IBD have focused on adult-onset disease, but the new study focused on childhood-onset IBD, which tends to be more severe than adult-onset disease, the researchers said.
The results of the genome-wide association study that involved more than 3,400 children and adolescents with IBD, plus nearly 12,000 genetically matched control subjects, appears in the online early edition of the journal Nature Genetics.