engleski

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

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.

rheumatic diseases, HLA-DRB1, Croatian population

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