Scientific paper - Original scientific paper
HLA-DQA1 and HLADQB1 genes in celiac disease

Mijandrušić Sinčić, Brankica; Starčević Čizmarević, Nada; Licul, Vanja; Crnić-Martinović, Marija; Ristić, Smiljana; Kapović, Miljenko (2016)
Metadata
Language Croatian
Title (Croatian)HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom
Title (English)HLA-DQA1 and HLADQB1 genes in celiac disease
AuthorMijandrušić Sinčić, Brankica
Starčević Čizmarević, Nada
Licul, Vanja
Crnić-Martinović, Marija
Ristić, Smiljana
Kapović, Miljenko
Abstract (Croatian)
Cilj: Utvrditi učestalost alela i genotipova HLA-DQA1 i HLA-DQB1 gena u oboljelih od celijakije, kao i njihov utjecaj na kliničku ekspresiju bolesti. Ispitanici i metode: U ispitivanje je uključeno 110 pacijenata (60 žena i 50 muškaraca) s dijagnosticiranom celijakijom prema revidiranim ESPGHAN kriterijima (The European Society for Pediatric Gastroenterology Hepatology and Nutrition) koji su klinički obrađeni na Klinici za internu medicinu i Klinici za pedijatriju KBC-a Rijeka. Genotipizacija HLA alela klase II u pacijenata izvršena je metodom lančane reakcije polimerazom (PCR, engl. Polymerase Chain Reaction) s alel specifičnim početnicama (engl. Sequence Specific Primer – SSP), pri čemu su korišteni komercijalni kitovi niske i srednje rezolucije GenoVision SSP. Rezultati: Svi pacijenti imali su barem jedan rizični HLA-DQA1 ili HLA–DQB1 alel. Homozigota za rizične HLA-DQB1 alele bilo je 36,3 %, a za HLA-DQA1 34,5 %. Genotipovi za HLA-DQ2 i/ili DQ8 heterodimere prisutni su u 92,7 % pacijenata. HLA-DQ2 prisutan je u 79,1 % pacijenata, a HLA-DQ8 u 20,9 %. Nije utvrđena značajna razlika (P < 0,05) u učestalosti nosioca HLA-DQ2 i/ili DQ8 ovisno o tipu celijakije. Opažen je trend ranijeg postavljanja dijagnoze kao i veća pojavnost drugih autoimunosnih bolesti u homozigota u odnosu na ostale genotipove. Zaključci: Dobiveni rezultati ukazuju da je prisutnost HLA-DQ2/DQ8 heterodimera u hrvatskih pacijenata s celijakijom sukladna postojećem gradijentu sjever-jug u europskim populacijama. HLA genotipizacija pacijenata ima nesumnjiv značaj u kliničkoj praksi pri postavljanju dijagnoze.
Abstract (English)
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 (Croatian)celijakija HLA-DQ2 HLA-DQ8 HLA-DQA1 HLA-DQB1
Keywords (English)celiac disease, HLA-DQ2 HLA-DQ8 HLA-DQA1 HLA-DQB1
Publication typescientific paper - original scientific paper
Publication statuspublished
Peer reviewpeer review
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numbering2016, Vol. 52, No. 1, pp 87-94
ISSN0025-7729
Datepublication: 01.03.2016.
Article URLhttp://hrcak.srce.hr/153001
Scientific fieldBIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Scientific fieldBIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
InstitutionUniversity of Rijeka, Faculty of Medicine
(Department of Biology and Medical Genetics)
InstitutionUniversity of Rijeka, Faculty of Medicine
(Department of Internal Medicine)
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:255276