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

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...

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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/115403
Acceso en línea:https://hdl.handle.net/2445/115403
Access Level:acceso abierto
Palabra clave:Malaltia de Behçet
Espanya
Epidemiologia genètica
Behçet's disease
Spain
Genetic epidemiology
Descripción
Sumario: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.

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