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Scientific paper - Original scientific paper
HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom
Medicina Fluminensis : Medicina Fluminensis, 52 (2016), 1; 87-94. urn:nbn:hr:184:255276
Mijandrušić Sinčić, Brankica; Starčević Čizmarević, Nada; Licul, Vanja; Crnić-Martinović, Marija; Ristić, Smiljana; Kapović, Miljenko

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Mijandrušić Sinčić, B., Starčević Čizmarević, N., Licul, V., Crnić Martinović, M., Ristić, S. & Kapović, M. (2016). HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom. Medicina Fluminensis : Medicina Fluminensis, 52. (1), 87-94. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:255276

Mijandrušić Sinčić, Brankica, et al. "HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom." Medicina Fluminensis : Medicina Fluminensis, vol. 52, no. 1, 2016, pp. 87-94. https://urn.nsk.hr/urn:nbn:hr:184:255276

Mijandrušić Sinčić, Brankica, Nada Starčević Čizmarević, Vanja Licul, Marija Crnić Martinović, Smiljana Ristić and Miljenko Kapović. "HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom." Medicina Fluminensis : Medicina Fluminensis 52, no. 1 (2016): 87-94. https://urn.nsk.hr/urn:nbn:hr:184:255276

Mijandrušić Sinčić, B., et al. (2016) 'HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom', Medicina Fluminensis : Medicina Fluminensis, 52(1), pp. 87-94. Available at: https://urn.nsk.hr/urn:nbn:hr:184:255276 (Accessed 25 April 2024)

Mijandrušić Sinčić B, Starčević Čizmarević N, Licul V, Crnić Martinović M, Ristić S, Kapović M. HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2016 March 01 [cited 2024 April 25];52(1):87-94. Available at: https://urn.nsk.hr/urn:nbn:hr:184:255276

B. Mijandrušić Sinčić, N. Starčević Čizmarević, V. Licul, M. Crnić Martinović, S. Ristić and M. Kapović, "HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom", Medicina Fluminensis : Medicina Fluminensis, vol. 52, no. 1, pp. 87-94, March 2016. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:255276. [Accessed: 25 April 2024]

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Metadata
Title (croatian)HLA-DQA1 i HLADQB1 geni u pacijenata s celijakijom
Title (english)HLA-DQA1 and HLADQB1 genes in celiac disease
AuthorBrankica Mijandrušić Sinčić
AuthorNada Starčević Čizmarević
AuthorVanja Licul
AuthorMarija Crnić-Martinović
AuthorSmiljana Ristić
AuthorMiljenko Kapović
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
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)
Keywords (english)
Languagecroatian
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 52, no. 1, pp. 87-94
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:255276
Publication2016-03-01
Document URLhttp://hrcak.srce.hr/153001
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
RepositoryRepository of the University of Rijeka, Faculty of Medicine
Created on2017-04-21 12:19:47