Researchers found novel gene variants in Gut Disease affect children under age five

Researchers have discovered new gene variants associated with an often-severe type of the disease that affects children under the age of five. The findings were published online in the journal Gastroenterology.

"As we continue to understand the specific functions of these genes in this type of childhood-onset disease, we are working to design more effective therapies," said study leader Judith Kelsen from The Children's Hospital of Philadelphia (CHOP), US.

Inflammatory bowel disease (IBD) is a painful, chronic inflammation of the gastrointestinal tract.  In fact, very early-onset IBD (VEO-IBD), diagnosed under age five, is often more severe than IBD that starts later in childhood.

The study team analyzed DNA from 125 children with VEO-IBD, all of them under age four, along with DNA from 19 of their parents.  A control group of 210 participants included 145 healthy individuals, 45 patients with pediatric IBD and 20 with adult-onset Crohn's disease (one of the two major types of IBD).  The researchers found rare and novel variants in genes that regulate B-cells and T-cells -- immune cells with important roles in immunodeficiency disorders.  They also discovered rare variants in the IL10RA gene, a member of a key immune function pathway.

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