Arias-Correal, S. (Sofía)
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- Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance(BMJ Journals, 2020) Calvo-Paramo, E. (Enrique); Villota-Eraso, C. (Catalina); Padilla, D. (Diana); Reyes-Martinez, V. (Viviana); Bernal-Macías, S. (Santiago); Santos, A.M. (Ana M.); Arias-Correal, S. (Sofía); Londono, J. (John); Medina, J.F. (Juan Francisco); Avila-Portillo, L.M. (Luz M.); Martinez-Rodriguez, N. (Nancy); Muñoz, G-N. (Guisselle-Nathalia); Vargas-Alarcon, G. (Giliberto); Rueda, J.C. (Juan C.); Romero, C. (Consuelo); Cuervo, F. (Francy); Burgos-Vargas, R. (Ruben)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, 95/100 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, 95/100 CI 1.524 to 13.187; p=0.003) and (OR 9.014, 95/100 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.