ABSTRACT
OBJECTIVE: The aim of this study was to investigate the distribution of HLA-DRB1 alleles in patients with rheumatoid arthritis (RA) in the Sinj Region (SR) and the rest of the Split-Dalmatia County (SDC) in Croatia and to determine their relationship with disease severity. METHODS: A total of 74 RA patients and 80 healthy controls from the SR, and 74 RA patients and 80 healthy controls from the rest of the SDC were genotyped using sequence-specific oligonucleotide primed PCR. High-resolution typing of HLA-DRB1*04 alleles was performed using the single specific primed polymerase chain reaction (PCR-SSP) method. Serum anti-CCP, rheumatoid factor, Creactive protein, and erythrocyte sedimentation rate were measured in all RA patients, whereas disease activity was assessed by DAS-28 and functional status by the Health Assessment Questionnaire Disability Index. RESULTS: The HLA-DRB1*04 allele was more frequent in patients with RA from the SR than that in patients from the rest of the SDC (18.2% vs. 9.5%; Pâ¯= 0.014), whereas the HLA-DRB1*15 allele was more frequent in patients with RA from the rest of the SDC than in patients from the SR (16.2% vs. 7.4%; Pâ¯= 0.010). Shared epitope (SE) positive patients from the SR had significantly higher serum anti-CCP and RF antibody levels (Pâ¯= 0.014 and Pâ¯= 0.004, respectively), higher disease activity (Pâ¯= 0.043), and worse functional status (Pâ¯< 0.001), than SE-positive patients from the rest of the SDC. CONCLUSION: The observed higher incidence of more severe forms of RA in the SR in comparison to the rest of the SDC might be associated with the higher incidence of HLA-DRB1*04 allele in the SR.
Subject(s)
Arthritis, Rheumatoid , HLA-DRB1 Chains , Alleles , Anti-Citrullinated Protein Antibodies , Arthritis, Rheumatoid/epidemiology , Arthritis, Rheumatoid/genetics , Autoantibodies , Croatia/epidemiology , Epitopes , Genetic Predisposition to Disease , Genotype , HLA-DRB1 Chains/genetics , Humans , Peptides, Cyclic/genetics , Rheumatoid FactorABSTRACT
BACKGROUND: We aimed to investigate possible association between the HLA-B*35 allele and peripheral arthritis, tenosynovitis and enthesitis. METHODS: Ultrasound of peripheral joints and tendons was performed in 72 HLA-B*35 positive patients with preliminary diagnosis of undifferentiated axial form of spondyloarthitis and joint and tendon pain. Patients with other known types of axial and peripheral spondyloarthritis were excluded as well as patients with other known types of arthritis. RESULTS: Pathological changes were found in the joints of 33 (46%) patients and on the tendons in 13 (18%) patients. The most common ultrasound findings were joint effusion and synovial proliferation with positive power Doppler signal grade 1. The most common ultrasound finding in patients with painful tendons was tenosynovitis. A higher disease activity and an increased incidence of elevated CRP (≥5 mg/L) were more often observed in the group with positive ultrasound findings. CONCLUSION: In this study, we showed that the HLA-B*35 allele could be a potential risk factor for developing peripheral arthritis, but not for tenosynovits and enthesitis in patients with the undifferentiated axial form of spondyloarthritis. This result may influence the follow up of these patients, especially since it gives us an opportunity to consider the use of different types of DMARDs in the treatment of these patients.
Subject(s)
Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/epidemiology , Adult , Age Distribution , Aged , Aged, 80 and over , Cohort Studies , Croatia/epidemiology , Demography , Female , Humans , Male , Middle Aged , Prevalence , Retrospective Studies , Risk Assessment , Severity of Illness Index , Sex Distribution , Young AdultABSTRACT
Bone Marrow Donors Worldwide (BMDW) represent continuing efforts to collect HLA phenotypes of volunteer stem cell donors and cord blood units, being responsible for co-ordination of their worldwide distribution. Participants are 59 stem cell donor registries from 43 countries, and 40 cord blood banks from 25 countries. BMDW started as an initiative of the Immunobiology Working Party of the European Group of Blood and Marrow Transplantation (EBMT) in 1988. In February 1989, the first edition was distributed, which contained donor files of eight registries with a total of 155,000 volunteer stem cell donors. The current number of donors and cord blood units in the BMDW database is 12,092,374.
Subject(s)
Bone Marrow Transplantation , Internationality , Registries/statistics & numerical data , Tissue Donors/statistics & numerical data , HLA Antigens/analysis , HumansABSTRACT
The rate of hematopoietic stem cell (HSC) transplantation from unrelated HSC donors is on an increase. This treatment modality requires establishment of the registry of HSC donors. The protocol of compatible graft identification and procedure of graft procurement for transplantation are described. Results recorded at Department of Tissue Typing, Zagreb University Hospital Center since 1983 are presented.
Subject(s)
Hematopoietic Stem Cells , Registries , Tissue Donors , Croatia , Hematopoietic Stem Cell Transplantation , HumansABSTRACT
Information about the chimeric status of patients is of great importance in comparison of different conditioning and prophylactic regimens as well as for the post-bone marrow transplantation (BMT) therapies. In some cases, mixed chimerism (MC) can also be predictive of relapse. Analysis of the short tandem repeats (STR) loci by polymerase chain reaction (PCR) is a choice method for this purpose. In this study, we monitored 15 patients after BMT. Twelve of them underwent classical-conditioning regimen while the remaining three patients were subjected to non-myeloablative conditioning (minitransplantation). Evaluation of chimerism was performed using five STR and one variable number of tandem repeats (VNTR) locus. Four additional loci were PCR-amplified in cases of minitransplantation. Samples were analyzed by electrophoresis in an ALFexpress sequencer. MC was detected in seven cases of which it was predictive of relapse for two patients, who suffered from acute lymphocytic leukemia (ALL). The PCR-STR method proved to be a fast and relatively simple method, while the tested STR loci showed a high level of informativeness.
Subject(s)
Bone Marrow Transplantation , Chimerism , DNA/genetics , Polymorphism, Genetic , Precursor Cell Lymphoblastic Leukemia-Lymphoma/surgery , Tandem Repeat Sequences/genetics , Adolescent , Adult , Child , Child, Preschool , Electrophoresis , Female , Follow-Up Studies , Genetic Markers , Graft Rejection/diagnosis , Graft Rejection/genetics , Humans , Male , Middle Aged , Polymerase Chain Reaction , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Prognosis , Recurrence , Risk Factors , Transplantation, HomologousABSTRACT
The aim of the present study was to analyze the distribution of HLA-A, -B, -Cw, and -DRB1 alleles among patients with psoriatic arthritis (PsA) in Croatia. DNA was isolated from peripheral blood of 58 PsA patients (28 male and 30 female) and tested by PCR-SSP (Polymerase Chain Reaction - Sequence Specific Primers) method for polymorphism of the above mentioned HLA loci. The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B* 13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients.