| Popis: |
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. |
