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

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: PLoS One. 2014 Jul 14;9(7):e102100

Editorial: Public Library of Science

 Fecha de publicación: 01/07/2014

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1371/journal.pone.0102100

ISSN: 1932-6203

Proyecto español: 10/1701 ; CTS-0197 ; CTS-180 ; RD08/0075/0013 ; 0260/08 ; FI11/00547

Autores/as

CONDE JALDÓN, MARTA

MONTES CANO, MARCO ANTONIO

GARCÍA LOZANO, JOSÉ RAUL

ORTIZ FERNÁNDEZ, LOURDES

ORTEGO CENTENO, NORBERTO

GONZÁLEZ LEÓN, ROCÍO

ESPINOSA, GERARD

GRAÑA GIL, GENARO

SÁNCHEZ BURSÓN, JUAN

BARNOSI MARÍN, ANA CELIA

SOLANS, ROSER

FANLO, PATRICIA

RODRÍGUEZ CARBALLEIRA, MÓNICA

CAMPS, TERESA

CASTAÑEDA, SANTOS

MARTÍN, JAVIER

GONZÁLEZ ESCRIBANO, MARÍA FRANCISCA