1. Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance.
- Author
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Londono J, Santos AM, Rueda JC, Calvo-Paramo E, Burgos-Vargas R, Vargas-Alarcon G, Martinez-Rodriguez N, Arias-Correal S, Muñoz GN, Padilla D, Cuervo F, Reyes-Martinez V, Bernal-Macías S, Villota-Eraso C, Avila-Portillo LM, Romero C, and Medina JF
- Subjects
- Adult, Alleles, Autoimmunity, Biomarkers blood, Biomarkers metabolism, Colombia, Cytokines blood, Cytokines metabolism, Female, Genetic Association Studies, Genotype, HLA-B15 Antigen immunology, HLA-B27 Antigen immunology, Histocompatibility Testing, Humans, Inflammation Mediators, Magnetic Resonance Imaging, Male, Middle Aged, Phenotype, Radiography, Spondylarthritis metabolism, Aminopeptidases genetics, Genetic Predisposition to Disease, HLA-B15 Antigen genetics, HLA-B27 Antigen genetics, Polymorphism, Single Nucleotide, Spondylarthritis diagnosis, Spondylarthritis etiology
- Abstract
Objective: To determine the association between endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single-nucleotide polymorphisms (SNPs) and human leukocyte antigens (HLA)-B27+ or HLA-B15+ patients with spondyloarthritis (SpA)., Methods: 104 patients with SpA according to Assessment of Spondyloarthritis International Society criteria were included in the study. HLA typing was performed by PCR. The polymorphisms were determined by real-time PCR on genomic DNA using customised probes for SNPs rs27044, rs17482078, rs10050860 and rs30187 in ERAP1 , and rs2910686, rs2248374 and rs2549782 in ERAP2 ., Results: 70 of the104 patients with SpA were HLA-B27+ and 34 were HLA-B15+. The distribution of ERAP1 and ERAP2 SNPs between the HLA-B15+ and HLA-B27+ patients with SpA did not reveal differences. Likewise, no differences in the frequencies of ERAP1 SNP haplotypes and alleles HLA-B15 or HLA-B27 were found. Interestingly, however, the frequencies of three particular haplotypes formed by ERAP2 SNPs rs2549782/rs2248374/rs2910686 varied between HLA-B15+ and HLA-B27+ patients: the ERAP2 SNPs haplotype TGT was more common in HLA-B15+ patients with SpA (OR 2.943, 95% CI 1.264 to 6.585; P=0.009), whereas the ERAP2 SNP haplotypes TGC and CAT were more associated with HLA-B27+ patients with SpA: (OR 4.483, 95% CI 1.524 to 13.187; p=0.003) and (OR 9.014, 95% CI 1.181 to 68.807; p=0.009), respectively., Conclusion: An association was found between HLA-B15+ patients with SpA and haplotype TGT of ERAP2 SNPs. On the other hand, HLA-B27+ patients with SpA were associated with ERAP2 haplotypes TGC and CAT. These associations could be related to the clinical presentation of the disease, specifically with a peripheral or axial predominance, respectively., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2020
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