Polymorphism within the HLA-DQB1*02 promoter associated with susceptibility to coeliac disease.
Fernandez-Arquero M. Caldes T. Casado E. Maluenda C. Figueredo MA. De La Concha EG.
Department of Immunology, San Carlos University Hospital, Madrid, Spain.
Susceptibility to coeliac disease is associated with a particular HLA-DQ alpha beta heterodimer encoded by the DQA1*0501 and DQB1*02 genes. A single base polymorphism in the DQB1*02 promoter region in DR7, DQA1*0201, DQB1*02 haplotypes was observed, associated with an increased susceptibility to the disease. This finding suggests a novel mechanism of susceptibility to immune-mediated diseases.