Naslov
Evaluation of routine disease association HLA-DRB1 typing for rheumatic diseases

Autori
Martinez, Natalija ; Palfi, Biserka ; Kopic, Kristina ; Grubic, Zorana ; Zunec, Renata

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts for the 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI) Mannheim/Heidelberg, Germany 30 May-2 June 2017 / Steven GE Marsh - : John Wiley & Sons, 2017, 444-444

Skup
The 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI) Mannheim/Heidelberg, Germany

Mjesto i datum
Mannheim, Njemačka, 30.05.2017. - 02.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
reumatske bolesti, HLA-DRB1, hrvatska populacija
(rheumatic diseases, HLA-DRB1, Croatian population)

Sažetak
HLA testing is commonly performed for selected patient populations for supporting the diagnosis of certain autoimmune diseases. The aim of this study was to investigate the distribution of HLA-DRB1 genes in 628 patients that were referred to our laboratory for HLA typing for rheumatic disease association testing (ICD-10, M00-M99)in a one year period. Individuals from the Croatian Bone Marrow Donor Registry (CBMDR) were used as controls. HLA-DRB1 typing was performed by a PCR-SSO method. Statistically significant difference were not observed between the entire group of patients and controls. Furthermore, according to the diagnosis, patients were grouped in 6 groups large enough to be included in a subsequent analysis, as follows: Inflammatory Polyarthropathy (IPA ; N=239), Rheumatoid Arthritis RF+ (RA/RF+ ; N=70), RA/RF- (N=83), Psoriatic Arthritis (PsA, N=112), Ankylosing Spondylitis (AS, N=61) and Spondyloarthritis (SpA ; N=63). The comparison of HLA-DRB1 allele frequency distribution between each group of patients and controls, revealed difference only in PsA patients and RA/RF+ patients. In PsA patients we confirmed the previously established association of DRB1*07 (P=0.0106 ; OR=0.74), but also the increase of DRB1*14 gene (P=0.0003 ; OR=1.16), while DRB1*11 showed lower frequency in comparison to the controls (10.7% vs. 16.7% ; P=0.0230 ; OR= 0.24). These results reinforce the importance of evaluating disease susceptibility alleles in our population and suggest that additional analysis are required before DRB1 genotyping is incorporated into clinical diagnostic algorithms.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Kliničke medicinske znanosti

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