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PLoS One. 2014 Jul 14;9(7):e102100. doi: 10.1371/journal.pone.0102100. eCollection 2014.

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

Author information

  • 1Servicio de Inmunología, IBiS, H.U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
  • 2Servicio de Medicina Interna, H. Clínico San Cecilio, Granada, Spain.
  • 3Servicio de Medicina Interna, H. U. Virgen del Rocío, Sevilla, Spain.
  • 4Servicio de Enfermedades Autoinmunes, H. Clinic, Barcelona, Spain.
  • 5Servicio de Reumatología, CHU A Coruña, Spain.
  • 6Servicio de Reumatología, H. de Valme, Sevilla, Spain.
  • 7Servicio de Reumatología, H. Marques de Valdecilla, Santander, Spain.
  • 8Servicio de Medicina Interna, H. Torrecárdenas, Almería, Spain.
  • 9Servicio de Medicina Interna, H. Vall d'Hebron, Barcelona, Spain.
  • 10Servicio de Medicina Interna, H. Virgen del Camino, Pamplona, Spain.
  • 11Medicina Interna Unitat de Malalties Autoimmunes i Sistèmiques Hospital Universitari Mútua Terrassa, Barcelona, Spain.
  • 12Servicio de Medicina Interna, H. Carlos Haya, Málaga, Spain.
  • 13Servicio de Reumatología, H. de la Princesa, Madrid, Spain.
  • 14Instituto de Parasitología y Biomedicina López Neyra, CSIC, Granada, Spain.


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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