Incidence of HLA-DQA1 and DQB1 Alleles in Patients with Coeliac Disease

Overview

The authors examined the incidence of HLA-DQA1 and DQB1 alleles in 89 children with a sporadic occurrence of coeliac disease and compared the findings with those assembled in 120 healthy subjects. The relative risk (RR) of the disease was assessed. Coeliac disease was diagnosed according to ESPGAN criteria. HLA alleles class II were examined by the PCR SSO method. HLA-DQA1*0501, DQB1*0201 are present in a total of 77 patients (85%), the RR is 24.3, and 25 in controls (19.4%); homozygotes DQA1*0501, 0501, DQB1*0201, 0201 detected in 12 patients (RR 18.7) and in none of the controls, heterozygotes DQA1*0501, DQB1*0201 in 26 patients (RR 2.34) and 18 controls. A combination of alleles HLA-DQA1*0301, DQB1*0302 was found in six patients (RR 0.42) and in 16 controls. The incidence of alleles HLA-DQ1*0501, DQB1*0201 in our population is similar as in European countries (Italy and Spain 92%, France 89%, it is higher in Norway 98%, lower in Israel 71%). The findings confirm the primary role of this dimer in the genetic susceptibility for coeliac disease. Alleles HLA-DQA1*0301, DQB1*0302 are not involved in the etiopathogenesis of coeliac disease in our population.

Key words:
coeliac disease, genetics, HLA-DQA1 and DQB1 alleles