ABSTRACT
Aim To analyse the association of human leukocyte antigen B27 with clinical and laboratory parameters in patients with juvenile idiopathic arthritis (JIA) at the disease onset. Methods A retrospective review of medical records of 25 HLAB27 positive and 25 HLA-B27 negative JIA patients was performed. The diagnosis of JIA was based on the 1997-2001 International League Against Rheumatism (ILAR) criteria. Collected data: age, sex, HLA- B27 antigen presence, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), rheumatoid-factor (RF), antinuclear antibody (ANA), fever, rash, uveitis, enthesitis, inflamed joints and subtype of JIA. Results HLA- B27 positive study group had more boys (p=0.01), higher erythrocyte sedimentation rate (p=0.038), higher presence of fever (p= 0.025) and enthesitis (p=0.024). Any significant difference in age of the disease onset, CRP, ANA, RF, rash, uveitis, inflamed joint and dactylitis was not noticed. The most common subtype of JIA in the HLA-B27 positive patients was ERA (60%). Conclusion This study showed that the presence of HLA- B27 antigen plays a significant role in determining the presenting clinical and laboratory characteristics in JIA patients.
ABSTRACT
OBJECTIVES: This study aims to investigate the low-resolution human leukocyte antigen (HLA)-B locus polymorphisms between unrelated healthy individuals and patients with diagnosis of seronegative spondyloarthropathies and determine risky and protective allelic groups and genotypes. PATIENTS AND METHODS: The study included 104 healthy control individuals (52 males, 52 females; median age 43 years; range 2 to 76 years) and 96 patients (43 males, 53 females; median age 28.5 years; range 2 to 67 years) diagnosed with: ankylosing spondylitis (AS) (n=19), reactive arthritis (n=19), psoriatic arthritis (n=28) and undifferentiated spondyloarthropathies (n=30). Genomic deoxyribonucleic acid was extracted from peripheral blood to detect allelic groups of HLA class I and II. Single-specific-primer polymerase chain reaction was used for HLA genotyping and visualization of products after their separation on 1.5% agarose gel for horizontal gel electrophoresis. RESULTS: Significantly increased frequency was found for HLA-A*02 and HLA-B*27 allelic variants in all groups of patients. The increased frequency of the HLA-B*35 allelic group in the control group represents the protective gene variant for the occurrence of AS. The predisposing genotype (HLA-B*27/B*44 and B*27/B*51) for the onset of disease was only found in AS patients. CONCLUSION: This study shows the strong association of HLA-B*27 antigen with spondyloarthropathies, which is considered a risk variant of the gene for the onset of disease. Protective and risky allelic variants and genotypes are rare and their detection as well as increased frequency are possible if larger numbers of patients are involved.
ABSTRACT
AIM: The research was conducted by genotyping two Human Leukocyte Antigen (HLA) gene classes. The main objective of this research was to investigate distribution and frequency of the allelic groups, genotypes and haplotypes in the gene loci of HLA class I (HLA-A*, -B*, -C*) and HLA class II (HLA-DRB1*, -DQB1*) in patients included in the program of cadaveric renal transplantation. MATERIAL AND METHODS: Our study covered 186 blood samples of patients who are registered on the list for cadaveric renal transplantation in Federation of Bosnia and Herzegovina and included 59 control, healthy unrelated individuals. For the HLA typing, we have used three different methods: micro lymphocyte cytotoxicity test (MLCT), Polymerase Chain Reaction (PCR) - Sequence Specific Primers (SSP) and PCR - Sequence-Specific Oligonucleotides (SSO) or Luminex technology. All patients and cadaveric donors were tested using the three methods because the system is polymorphic. RESULTS: Analysis of the results of genotyping HLA class I gene loci identified dominant HLA-A*02, HLA-B*35, HLA-C*07 allelic groups. Analysis of the HLA class II gene loci genotyping showed that HLA-DRB1*11 and HLA-DQB1*03 loci had the highest incidence in HLA class II. CONCLUSION: Based on our results and previous research, there were no observed differences between allelic frequencies and genotypes of healthy people and people with ESRD. Differences between allelic groups occurred, but they were not statistically significant, except HLA-C*01 (p = 0.020).
ABSTRACT
OBJECTIVES: This study aims to analyze human leukocyte antigen A (HLA-A), human leukocyte antigen B (HLA-B), human leukocyte antigen C (HLA-C), HLA-DRB1*, HLA-DRB3*, HLA-DRB4*, HLA-DRB5*, HLA-DQB1* loci expression in patients with rheumatoid arthritis (RA) in the Federation of Bosnia and Herzegovina. PATIENTS AND METHODS: Deoxyribonucleic acid was isolated from peripheral blood of 48 RA patients (22 males, 26 females; mean age 36 years; range 2 to 63 years) and 104 healthy control individuals (52 males, 52 females; mean age 43 years; range 2 to 76 years). Deoxyribonucleic acid samples were analyzed using polymerase chain reaction-sequence-specific primers and sequence specific oligonucleotides methods. RESULTS: The most frequent allelic groups in RA patients were HLA-DRB1*01 (odds ratio=2.795; 95% confidence interval: 1.441-5.421; p=0.004) and HLA-DRB1*04 (odds ratio=2.573; 95% confidence interval: 1.214-5.453; p=0.023). Among RA patients, the most frequent genotype for the allelic group HLA-DRB1*, in the light of the common epitopes theory, was observed for DRB1*01/DRB1*13. This genotype indicates an increased incidence and relative risk (odds ratio=11.09). CONCLUSION: The most common genotype in our RA patients was DRB1*01/DRB1*13, which showed increased frequency and a high relative risk. This genotype variant may be considered a predisposing factor for the development of RA.
