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Background & Aims: Celiac disease (CD) is characterized by an inappropriate T-cell-mediated response to gluten in small bowel in genetically predisposed individuals, carriers of the DQ2 and/or DQ8 haplotypes of the human leukocyte antigen (HLA). Our aim was to assess HLA typing in adult patients with CD, in their first-degree relatives and in a healthy control group. Methods: Our prospective observational study included three cohorts: 117 patients diagnosed with CD, 41 first-degree relatives of CD patients and 57 asymptomatic healthy volunteers. Low resolution HLA typing for DQ alleles was performed in all subjects with DNA extracted from peripheral blood, using SSP HLA-DQB1 kit (InnotrainDiagnostik GmbH, Germany). Next generation sequencing was used only in 18 patients for typing confirmation of DQB1 and DQA1 loci and whole gene sequencing. Results: Prevalence of HLA-DQ2 was significantly higher in the CD group compared to the healthy subjects group (95.6% vs 29.8%, p<0.001), with no statistically significant differences in HLA-DQ8 and combined HLA-DQ2/DQ8 prevalences. Several HLA DQA1 and DQB1 alleles (HLA-DQA1*05:01, HLA-DQB1*02:01, HLA-DQB1*02:02) and haplotypes (DQA1*02:01-DQB1*02:02,DQA1*05:01-DQB1*02:01) were strongly associated with CD in our group (OR 4.28, 4.28, 4.67 and 5.43 and 4.28 respectively). Screening adherence for first-degree relatives was very low: 16%. Familial screening diagnosed 4 cases of asymptomatic CD. 32 relatives (78%) had HLA-DQ2 haplotype, 5 carried HLA-DQ8, 4 did not carry any risk of a haplotype. Conclusions: This study demonstrated a higher prevalence of the HLA-DQ2 genotype in patients with CD compared to the healthy population but not of HLA-DQ8 or combined HLA-DQ2/DQ8. Alleles HLA-DQA1* 05:01, HLA-DQB1*02:01, HLA-DQB1*02:02 and haplotypes (DQA1*02:01-DQB1*02:02,DQA1*05:01-DQB1*02:01) were strongly associated with CD in our cohort. [ABSTRACT FROM AUTHOR]