Recent Advance in Basic Science
Genetic of celiac disease: the role of single-copy DQ B1*02
Chiara Maria Trovato1, Monica Montuori1, Barbara Mora2, Antonio Pizzuti2
1 Pediatric Gastroenterology and Liver Unit, Maternal and Child Health Department, Sapienza - University of Rome, Rome, Italy 2 Department of Medical Genetics, Sapienza - University of Rome, Rome, Italy.
Several heterodimers have been associated with celiac disease: the HLA-DQ2.5 (encoded by DQB1*02 and DQA1*05 alleles) both in cis and in trans (which occur in approximately 90% of CD patients), the HLA-DQ2.2 heterodimer (DQB1*02 and DQA1*02) and the HLA-DQ8 heterodimer (DQB1*03:02 and DQA1*03). Recent data prove that the isolated presence of DQB1*02 can be considered as a risk factor for develop CD.