Association of human leukocyte A, B, and DR antigens in Colombian patients with diagnosis of spondyloarthritis

Abstract

There is substantial evidence that non-B27 major histocompatibility complex (MHC) genes are associated with spondyloarthritis (SpA). Studies in Mexican and Tunisian populations demonstrated the association of SpA and human leukocyte antigen (HLA) B15. The purpose of this study was to evaluate the association of HLA-A, B, and DR antigens in a group of Colombian patients with a diagnosis of SpA. A total of 189 patients and 100 healthy subjects were included in the present study. All subjects underwent a complete characterization of HLA alleles A, B, and DR. Of the 189 studied patients, 35 were reactive arthritis (ReA), 87 were ankylosing spondylitis (AS), and 67 undifferentiated SpA (uSpA). According to the Assessment of Spondyloarthritis International Society (ASAS) criteria, 167 were axial SpA (axSpA) and 171 were peripheral SpA (pSpA). 63.8% were men, with a mean age of 35.9 ± 12.7 years. 40.7% (77/189) of patients were HLA-B27 positive of which 52.9% had AS and 42.5% axSpA. 23.2% (44/189) of patients were HLA-B15 positive: 23.8% were uSpA, 12.57% were axSpA, and 11.7% were pSpA. In addition, HLA-DRB1*01 was associated with AS (58.6%) and axSpA (42.5%). Also, HLA-DRB1*04 was present in 62 patients with AS (71.2%) and in 26 with axSpA (15.5%). In this population, we found a strong association between the presence of HLA-B27 and the diagnosis of axSpA and AS, but the HLA-B15 is also significantly associated with all subtypes of the disease, predominantly with pSpA. Additionally, HLA-DR1 and DR4 were associated in a cohort of patients with SpA from Colombia.

HLA class I and II alleles in susceptibility to ankylosing spondylitis

“…We could not confirm some other associations described in smaller AS or SpA cohorts elsewhere32–34 perhaps due to clinical heterogeneity. One small recent study of HLA-A, HLA-B, HLA-C and DRB1 alleles in 75 Moroccan patients with AS reported an allele frequency of HLA-B*27 of 32%, with associations also seen with B*57 , C*02 and DRB1*15 and negative associations with HLA-B*35 and B*49 32.…”

Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance

“…In addition to the expected increase in the frequency of HLA-B27, we also found an increased frequency of HLA-B15 in our patients with SpA. 14 Also, we reported a clear association between HLA-B27 with axial SpA including AS, and HLA-B15 with peripheral SpA including undifferentiated spondyloarthritis. 15 The objective of the present study was to establish the association of polymorphisms of ERAP1 and ERAP2 genes in Colombian patients with SpA with HLA-B27+ or HLA-B15+, and to evaluate how this association could be related to the clinical presentation of the disease, specifically with axial or peripheral predominance.…”

“…In addition to the expected increase in the frequency of HLA-B27, we also found an increased frequency of HLA-B15 in our patients with SpA. 14 Also, we reported a clear association between HLA-B27 with axial SpA including AS, and HLA-B15 with peripheral SpA including undifferentiated spondyloarthritis. 15 …”

“…In a previous study, 14 our patients with SpA and a control group of 100 healthy subjects on the list of transplant donors with similar socio-demographic characteristics as our SpA population were compared for the analysis of the Hardy-Weinberg equilibrium by using the Arlequin statistical software version 3.5. 20 Allele frequency (AF) among the patient population was calculated using updated versions of the Genepop Program.…”

“… 21 Likewise, the increase in the frequency of HLA-B27 or HLA-B15 in the group of patients with SpA, compared to the aforementioned healthy control population, was determined with the Genepop Program as described. 14 …”