Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance
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 Spondylo...
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| Format: | info:eu-repo/semantics/article |
| Language: | eng |
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BMJ Journals
2023
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| Online Access: | https://hdl.handle.net/10171/65504 |
| _version_ | 1793400090989166592 |
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| author | Londono, J. (John) Santos, A.M. (Ana M.) Rueda, J.C. (Juan C.) Calvo-Paramo, E. (Enrique) Burgos-Vargas, R. (Ruben) Vargas-Alarcon, G. (Giliberto) Martinez-Rodriguez, N. (Nancy) Arias-Correal, S. (Sofía) Muñoz, G-N. (Guisselle-Nathalia) Padilla, D. (Diana) Cuervo, F. (Francy) Reyes-Martinez, V. (Viviana) Bernal-Macías, S. (Santiago) Villota-Eraso, C. (Catalina) Avila-Portillo, L.M. (Luz M.) Romero, C. (Consuelo) Medina, J.F. (Juan Francisco) |
| author_facet | Londono, J. (John) Santos, A.M. (Ana M.) Rueda, J.C. (Juan C.) Calvo-Paramo, E. (Enrique) Burgos-Vargas, R. (Ruben) Vargas-Alarcon, G. (Giliberto) Martinez-Rodriguez, N. (Nancy) Arias-Correal, S. (Sofía) Muñoz, G-N. (Guisselle-Nathalia) Padilla, D. (Diana) Cuervo, F. (Francy) Reyes-Martinez, V. (Viviana) Bernal-Macías, S. (Santiago) Villota-Eraso, C. (Catalina) Avila-Portillo, L.M. (Luz M.) Romero, C. (Consuelo) Medina, J.F. (Juan Francisco) |
| author_sort | Londono, J. (John) |
| collection | DSpace |
| description | 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. |
| format | info:eu-repo/semantics/article |
| id | oai:dadun.unav.edu:10171-65504 |
| institution | Universidad de Navarra |
| language | eng |
| publishDate | 2023 |
| publisher | BMJ Journals |
| record_format | dspace |
| spelling | oai:dadun.unav.edu:10171-655042023-02-27T06:09:12Z Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance Londono, J. (John) Santos, A.M. (Ana M.) Rueda, J.C. (Juan C.) Calvo-Paramo, E. (Enrique) Burgos-Vargas, R. (Ruben) Vargas-Alarcon, G. (Giliberto) Martinez-Rodriguez, N. (Nancy) Arias-Correal, S. (Sofía) Muñoz, G-N. (Guisselle-Nathalia) Padilla, D. (Diana) Cuervo, F. (Francy) Reyes-Martinez, V. (Viviana) Bernal-Macías, S. (Santiago) Villota-Eraso, C. (Catalina) Avila-Portillo, L.M. (Luz M.) Romero, C. (Consuelo) Medina, J.F. (Juan Francisco) Ankylosing spondylitis Autoimmune diseases Gene polymorphism Spondyloarthritis 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. 2023-02-20T07:48:19Z 2023-02-20T07:48:19Z 2020 info:eu-repo/semantics/article https://hdl.handle.net/10171/65504 eng info:eu-repo/semantics/openAccess application/pdf BMJ Journals |
| spellingShingle | Ankylosing spondylitis Autoimmune diseases Gene polymorphism Spondyloarthritis Londono, J. (John) Santos, A.M. (Ana M.) Rueda, J.C. (Juan C.) Calvo-Paramo, E. (Enrique) Burgos-Vargas, R. (Ruben) Vargas-Alarcon, G. (Giliberto) Martinez-Rodriguez, N. (Nancy) Arias-Correal, S. (Sofía) Muñoz, G-N. (Guisselle-Nathalia) Padilla, D. (Diana) Cuervo, F. (Francy) Reyes-Martinez, V. (Viviana) Bernal-Macías, S. (Santiago) Villota-Eraso, C. (Catalina) Avila-Portillo, L.M. (Luz M.) Romero, C. (Consuelo) Medina, J.F. (Juan Francisco) Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title | Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title_full | Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title_fullStr | Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title_full_unstemmed | Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title_short | Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance |
| title_sort | association of erap2 polymorphisms in colombian hla-b27+ or hla-b15+ patients with spa and its relationship with clinical presentation: axial or peripheral predominance |
| topic | Ankylosing spondylitis Autoimmune diseases Gene polymorphism Spondyloarthritis |
| url | https://hdl.handle.net/10171/65504 |
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