THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE

the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease.

we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features.

there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046).

in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children.