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AB0009 The HLA Class I Region in Behçet's Disease: Identifying the Most Relevant Amino Acid Positions
  1. L. Ortiz-Fernández1,
  2. F.D. Carmona2,
  3. M.-A. Montes-Cano3,
  4. J.-R. García-Lozano3,
  5. M. Conde-Jaldόn3,
  6. N. Ortego-Centeno4,
  7. M.-J. Castillo-Palma5,
  8. G. Espinosa6,
  9. G. Graña-Gil7,
  10. J. Sánchez-Bursόn8,
  11. M.R. Juliá9,
  12. R. Solans10,
  13. R. Blanco11,
  14. A.-C. Barnosi-Marín12,
  15. P. Fanlo13,
  16. M. Rodriguéz-Carballeira14,
  17. T. Camps15,
  18. S. Castañeda16,
  19. J. Martín17,
  20. M.F. González-Escribano3
  1. 1Servicio de Inmunología, IBiS/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla
  2. 2Instituto de Parasitología y Biomedicina Lόpez-Neyra, Consejo Superior de Investigaciones Científicas, Granada
  3. 3Servicio de Inmunología, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla
  4. 4Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada
  5. 5Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Seville
  6. 6Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona
  7. 7Servicio de Reumatología, Complejo Hospitalario Universitario, A Coruña
  8. 8Servicio de Reumatología, Hospital Universitario de Valme, Seville
  9. 9Servei d'Inmunología, Hospital Universitari Son Espases, Palma de Mallorca
  10. 10Servicio de Medicina Interna, Hospital Vall d'Hebron, Barcelona
  11. 11SErvicio de Reumatología, Hospital Marqués de Valdecilla, Santander
  12. 12Servicio de Medicina Interna, Hospital de Torrecárdenas, Almería
  13. 13Servicio de Medicina Interna, Hospital Virgen del Camino, Pamplona
  14. 14Servicio de Medicina Interna, Hospital Universitari Mútua, Terrassa
  15. 15Servicio de Medicina Interna, Hospital Universitario Carlos Haya, Málaga
  16. 16Servicio de Reumatología, Hospital de la Princesa, Madrid
  17. 17Instituto de parasitología y biomedicina Lόpez Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain


Background Behçet's disease (BD) has been consistently associated with HLA class I molecules, specifically, with HLA-B51. However, the role of others HLA class I molecules remains controversial. The current methods of genotyping permit to deduce the HLA typing of a large number of individuals by imputation by using data obtained from high throughput platforms. This approach has improved the knowledge of the association of HLA with the susceptibility to immune-mediated diseases.

Objectives Review of the association of HLA region with BD by comprehensive reanalysis with using a novel imputation method [1,2].

Methods The HLA typings of 1794 individuals (277 patients and 1517 healthy controls) were imputed from SNPs genotyping data obtained by Human Immuno DNA Analysis BeadChip Kit (Immunochip). The statistical analyses were performed with PLINK and R.

Results The strongest association signals were observed in the HLA-B region, specifically, rs1050502 represented the highest peak (p=7.73 x 10-24, OR=4.029, 95%CI 3.123 to 5.198). According to the analysis performed, the amino-acid positions 97 in the HLA-B and 66 HLA-A molecules are the most relevant for the disease susceptibility.

Conclusions HLA-B and HLA-A are associated with the susceptibility to BD


  1. Raychauduri S, Sandor C, Stahl EA, et al. (2012) Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Gen 44,291-296

  2. Jia X, Han B, Onengut-Gumuscu S, et al. (2013) Imputing amino acid polymorphisms in human leukocyte antigens. PloS one 8, e64683

Disclosure of Interest None declared

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