Understanding the genetic mechanism of celiac disease

By Jason Clevenger

Understanding of the genetic mechanism of celiac disease has increased tremendously over the past decade. It is now well known that celiac disease is strongly associated with specific genes known as HLA DQ2 and HLA DQ8. While the HLA DQ2 gene has been found in approximately 90 percent of celiac disease patients (with the remaining 10 percent being positive for HLA DQ8), the DQ2 gene is relatively common (30 percent) in the Caucasian population, of whom only a small fraction develop celiac disease. Considerable research efforts are underway to uncover the environmental factors that influence this underlying genetic predisposition. In this sense, celiac disease is a window for insight into the age-old “nature vs. nurture” debate.