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2014-07-14

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cc-by (c) Conde Jaldón, Marta et al., 2014
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/115403

Epistatic interaction of ERAP1 and HLA-B in Behcet disease: A replication study in the Spanish population

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https://doi.org/10.1371/journal.pone.0102100

Resum

Behçet's disease (BD) is a multifactorial disorder associated with the HLA region. Recently, the ERAP1 gene has been proposed as a susceptibility locus with a recessive model and with epistatic interaction with HLA-B51. ERAP1 trims peptides in the endoplasmic reticulum to optimize their length for MHC-I binding. Polymorphisms in this gene have been related with the susceptibility to other immune-mediated diseases associated to HLA class I. Our aim was, the replication in the Spanish population of the association described in the Turkish population between ERAP1 (rs17482078) and BD. Additionally, in order to improve the understanding of this association we analyzed four additional SNPs (rs27044, rs10050860, rs30187 and rs2287987) associated with other diseases related to HLA class I and the haplotype blocks in this gene region. According to our results, frequencies of the homozygous genotypes for the minor alleles of all the SNPs were increased among patients and the OR values were higher in the subgroup of patients with the HLA-B risk factors, although differences were not statistically significant. Moreover, the presence of the same mutation in both chromosomes increased the OR values from 4.51 to 10.72 in individuals carrying the HLA-B risk factors. Therefore, although they were not statistically significant, our data were consistent with an association between ERAP1 and BD as well as with an epistatic interaction between ERAP1 and HLA-B in the Spanish population.

Matèries

Malaltia de Behçet, Espanya, Epidemiologia genètica

Matèries (anglès)

Behçet's disease, Spain, Genetic epidemiology

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Articles publicats en revistes (Medicina)

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CONDE JALDÓN, Marta, MONTES CANO, Marco antonio, GARCÍA LOZANO, José raúl, ORTIZ FERNÁNDEZ, Lourdes, ORTEGO CENTENO, Norberto, GONZÁLEZ LEÓN, Rocío, ESPINOSA GARRIGA, Gerard, GRAÑA GIL, Genaro, SÁNCHEZ BURSÓN, Juan, GONZÁLEZ-GAY, Miguel a., BARNOSI MARÍN, Ana celia, SOLANS, Roser, FANLO, Patricia, RODRÍGUEZ CARBALLEIRA, Mónica, CAMPS, Teresa, CASTAÑEDA, Santos, MARTÍN, Javier, GONZÁLEZ ESCRIBANO, María francisca. Epistatic interaction of ERAP1 and HLA-B in Behcet disease: A replication study in the Spanish population. _PLoS One_. 2014. Vol. 9, núm. 7, pàgs. e102100. [consulta: 21 de gener de 2026]. ISSN: 1932-6203. [Disponible a: https://hdl.handle.net/2445/115403]

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