LACK OF CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN CELIAC-DISEASE

Background: Celiac disease has a wide range of clinical features. The goal of this study was to evaluate whether specific HLA genotypes are associated with particular clinical appearances, Methods: One hundred forty-five patients with confirmed celiac disease were oligotyped for DR and DQ HLA genes. Clinical notes, physical examination, and a quest ionnaire provided their personal data. Patients were grouped into nine genotypic categories, according to the presence of tile specific DQ h eterodimer DQA10501-DQB1*0201 (hence termed alpha(0) beta(0)), in sin gle or double dose, and the presence of the DRB4 antigen. Results: Age al first symptoms and age at beginning of gluten-free diet were not s ignificantly different in the nine groups. The initial symptoms of the disease had a similar distribution in all groups. In twenty-seven pat ients, disease was diagnosed by family screening: they shared a simila r HLA genotype with those who had relevant symptoms. The actual growth status-evaluated by standardized height, percentage of median weight for age, and percentage of median weight for height-was not different in the nine groups. Presence of unusual health complaints was not asso ciated with a specific genotype. Conclusions: There is no evidence tha t clinical features of celiac disease are associated with different HL A genotypes. Genes outside the HLA may play a relevant role.