Association of HLA class I and II with occurrence of uveitis in Eastern Croatia

Abstract

Cilj istraživanja: Odrediti učestalost genskih varijanti lokusa HLA razreda I (HLA-A, -B) i II (HLA-DRB1, -DQB1) oboljelih od uveitisa u populaciji istočne Hrvatske i rezultate usporediti s podacima za kontrolnu zdravu populaciju Hrvatske. Ispitanici i metode: Skupina ispitanika sastojala se od 38 bolesnika (20 M, 18 Ž) s uputnom dijagnozom uveitisa kojima je molekularna tipizacija HLA učinjena u periodu od 2007. do 2017. godine metodom PCR-SSP niskog razlučivanja. Kontrolnu skupinu predstavljali su ranije objavljeni podaci molekularne tipizacije HLA zdravih nesrodnih osoba iz populacije Hrvatske. Rezultati: Povećana učestalost u skupini oboljelih u odnosu na kontrolnu skupinu nađena je za gene: HLA-A*29 (OR 1,48), -A*11 (OR 1,41), -A*32 (OR 1,39), -A*25 (OR 1,3), -A*03 (OR 1,23), -A*02 (OR 1,18), HLA-B*52 (OR 2,77), -B*50 (OR 2,75), -B*27 (2,03), -B*44 (OR 1,83), -B*57 (OR 1,50), -B*56 (OR 1,34), -B*08 (OR 1,21), HLA-DRB1*16 (OR 1,58), -DRB1*15 (OR 1,50), -DRB1*11 (OR 1,11) i HLA-DQB1*03(DQ9) (OR 3,22). Razlika u učestalosti navedenih gena HLA nije bila statistički značajna osim za HLA-B*27 (p=0,054) i -B*44 (p=0,071). Gen HLA-A*68 bio je statistički značajno učestaliji u kontrolnoj skupini (p=0,049, OR 0,14). Zaključak: Geni HLA-B*27 i HLA-B*44 u ovom su se istraživanju pokazali susceptibilni, a gen HLA-A*68 zaštitni za razvoj uveitisa u populaciji istočne Hrvatske. Dobiveni rezultati za gene HLA-A*29, HLA-B*27, HLA-B*44 i HLA-B*57 u skladu su s izvješćima istraživanja provedenih u europskim, blisko-istočnim, azijskim i američkim populacijama.Objectives: The aim of this study was to detrmine HLA class I (HLA-A, -B) and II (HLA-DRB1, -DQB1) gene frequencies in a group of patients affected with uveitis in the population of Eastern Croatia and to compare results with data from healthy population of Croatia. Participants and methods: A total of 38 patients (20 M, 18 F) were HLA typed at low resolution leel using PCR-SSP method in the period 2007-2017. The control group represents previously published data of molecular typing of HLA for healthy unrelated persons from the Croatian population. Results: Increased frequencies in tested group compared to control group were found for: HLA-A*29 (OR 1,48), -A*11 (OR 1,41), -A*32 (OR 1,39), -A*25 (OR 1,3), -A*03 (OR 1,23), -A*02 (OR 1,18), HLA-B*52 (OR 2,77), -B*50 (OR 2,75), -B*27 (2,03), -B*44 (OR 1,83), -B*57 (OR 1,50), -B*56 (OR 1,34), -B*08 (OR 1,21), HLA-DRB1*16 (OR 1,58), -DRB1*15 (OR 1,50), -DRB1*11 (OR 1,11) and HLA-DQB1*03(DQ9) (OR 3,22). The difference in the frequency of these HLA genes was not statistically significant except for HLA-B*27 (p=0,054) and -B*44 (p=0,071). HLA-A*68 was more frequent in the control group (p=0,049, OR 0,14). Conclusion: In this study the HLA-B*27 and HLA-B*44 were positively associated with uveitis unlike the HLA-B*68 which was protective for development of uveitis in population of Eastern Croatia. The results obtained for HLA-A*29, HLA-B*27, HLA-B*44 and HLA-B*57 are in concordance with research eports conducted in European, Middle East, Asian and American populations

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