June 11, 2007 -- Gene studies link celiac disease to a defective immune signal.
Celiac disease is a digestive disease sometimes called celiac sprue or gluten-sensitive enteropathy. When a person with celiac disease eats wheat or other foods containing gluten, damage to the small intestine results.
It's clear that the disease can be inherited. But it's been hard to identify genetic risk factors.
University of London researcher David van Heel and colleagues used recently developed genetic techniques to compare more than 300,000 gene regions in 778 patients with celiac disease and in 1,422 people without it.
The result: People with celiac disease tend to lack a protective DNA sequence that influences two immune-signaling proteins. The proteins are interleukin-2 (IL-2) and interleukin-21 (IL-21).
The genes affect an immune response called inflammation. Inflamed tissues send out signals that stir up the body's immune cells like a swarm of bees.
"We previously knew that celiac individuals had a specific tissue type which recognized wheat proteins," van Heel says in a news release. "We did not know why healthy individuals who had the same tissue type did not develop symptoms of disease. The first findings from our study suggest that interleukin genes that control inflammation are critical."
It's very difficult to diagnose and treat celiac disease. The new findings, and more findings yet to come from the study, are expected to lead to new discoveries in these areas.
Van Heel and colleagues report their findings in the June 10 online edition of Nature Genetics.