Original scientific paper

HLA-DQA1 and HLADQB1 genes in celiac disease

Brankica Mijandrušić Sinčić orcid.org/0000-0002-4795-3445 ; Klinika za internu medicinu, KBC Rijeka, Rijeka
Nada Starčević Čizmarević orcid.org/0000-0002-7779-0237 ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Vanja Licul ; Zavod za gastroenterologiju, Katedra za internu medicinu, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Marija Crnić-Martinović ; Klinički zavod za transfuzijsku medicinu, KBC Rijeka, Rijek
Smiljana Ristić orcid.org/0000-0002-5484-6445 ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Miljenko Kapović ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka

Abstract

Objective: To determine the frequency of alleles and genotypes of HLA-DQA1 and HLA-DQB1 genes in patients with celiac disease and their impact on the clinical expression of the disease. Subjects and Methods: The study involved 110 patients (60 women and 50 men) with celiac disease diagnosed according to the revised ESPGHAN (The European Society for Pediatric Gastroenterology Hepatology and Nutrition) criteria at the Clinic of Internal Medicine and Pediatric Clinic, University Hospital Centre Rijeka. The genotyping of HLA class II alleles was performed by polymerase chain reaction method (PCR) with allele-specific primers (Sequence Specific Primer-SSA) using commercial kits of low and medium resolution GenoVision SSP. Results: All patients had at least one risk HLA-DQA1 or HLA-DQB1 allele. Homozygotes for the HLA-DQB1 alleles were 36.3 %, and for HLA-DQA1 34.5 %. Genotypes for the HLA-DQ2 and/or HLA-DQ8 heterodimers were present in 92.7 % of patients. HLA-DQ2 was present in 79.1 % of patients while HLA-DQ8 in 20.9 %. There are no significant difference (P > 0.05) in the frequency of the HLA-DQ2 and/or HLA-DQ8 carriers depending on the type of celiac disease. An earlier diagnosis and greater incidence of other autoimmune diseases in homozygotes, compared to other genotypes, was observed. Conclusions: The results have shown that the presence of HLA-DQ2/DQ8 heterodimers in Croatian celiac patients is in range with the existing north-south gradient in European populations. HLA genotyping in celiac patients has explicit effects in clinical practice when setting up the diagnosis.

Keywords

celiac disease, HLA-DQ2; HLA-DQ8; HLA-DQA1; HLA-DQB1

Hrčak ID:

153001

URI

https://hrcak.srce.hr/153001

Publication date:

1.3.2016.

Article data in other languages: croatian

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