Lack of Correlation Between Genotype and Phenotype in Celiac Disease

    loading  Checking for direct PDF access through Ovid



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.


One hundred forty-five patients with confirmed celiac disease were oligotyped for DR and DQ HLA genes. Clinical notes, physical examination, and a questionnaire provided their personal data. Patients were grouped into nine genotypic categories, according to the presence of the specific DQ heterodimer DQA1*0501-DQB1*0201 (hence termed α0β0), in single or double dose, and the presence of the DRB4 antigen.


Age at first symptoms and age at beginning of glutenfree diet were not significantly different in the nine groups. The initial symptoms of the disease had a similar distribution in all groups. In twenty-seven patients, disease was diagnosed by family screening: they shared a similar 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 associated with a specific genotype.


There is no evidence that clinical features of celiac disease are associated with different HLA genotypes. Genes outside the HLA may play a relevant role.

Related Topics

    loading  Loading Related Articles