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Journal of Translational Medicine

Open Access

HLA and non-HLA genes in Behçet’s disease: a multicentric study in the Spanish population

  • Marco Antonio Montes-Cano1,
  • Marta Conde-Jaldon1,
  • Jose Raul Garcia-Lozano1,
  • Lourdes Ortiz-Fernandez1 and
  • Maria Francisca Gonzalez-Escribano1
Journal of Translational Medicine201210(Suppl 3):P53

Published: 28 November 2012


Single Nucleotide PolymorphismAllele FrequencyAssociation StudyProtective FactorGenome Wide Association


The aims of this study were to further investigate the influence of the HLA region in Behçet´s disease (BD) and to explore the relationship with non-HLA genes recently described to be associated in other populations.


A total of 208 BD patients and 283 ethnically matched controls were included in this study. HLA-A and HLA-B low resolution typing was carried out by PCR-SSOP Luminex. Eleven tag single nucleotide polymorphisms (SNPs) located outside of the HLA-region previously described associated with the disease in genome wide association studies with a minoritary allele frequency in Caucasian greater than 0.15 were genotyped using TaqMan assays.


Different HLA-A (A*24, A*31 and A*66) and HLA-B (B*51 and B*57) were associated to BD as risk factors, whereas others (A*03, B*35 and B*58) were found to be protective. Multivariate analysis performed grouping the HLA-A as well as the HLA-B risk and protective factors suggests 2-fold influence of HLA-B as a risk factor compared with HLA-A, but similiar influence of both loci as protective. When HLA risk factors were considered together, no influence of the HLA-A itself was detected. Regarding the non-HLA genes, IL23R was the most strongly associated to the disease in our population but its effect seems to be restricted to individuals bearing HLA-B risk factors.


Different HLA-B as well as HLA-A are associated to BD in addition to HLA-B51. Other non-HLA genes, such as IL23R, play a role in the susceptibility of the disease, although its influence could be conditioned to the presence of HLA factors.


Spanish Group for Behcet's disease study: Norberto Ortego-Centeno, María Jesús Castillo-Palma, Gerard Espinosa-Garriga, Miguel Angel González-Gay, Ana Celia Barnosi-Marín, Roser Solans, Patricia Fanlo, Teresa Camps, Santos Castañeda, Juan Sánchez-Bursón, Antonio Núñez-Roldán, Javier Martín, María Francisca González-Escribano.

This work was supported by Fondo de Investigaciones Sanitarias (FIS 10/1701), Fondos FEDER, Plan Andaluz de Investigación (PAI CTS-0197 and CTS-180), Red de Investigación Cooperativa en Enfermedades Inflamatorias y Reumáticas (RIER) and Consejería de Salud de la Junta de Andalucía (Exp. 0260/08).

Authors’ Affiliations

Dept. of Immunology, HU Virgen del Rocio, Sevilla, Spain


© Montes-Cano et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.