Lourdes Ortiz-Fernández1, José-Raul García-Lozano1, Marco-Antonio Montes-Cano1, Marta Conde-Jaldón1, Norberto Ortego-Centeno2, Francisco-Jose García-Hernández3, Gerard Espinosa4, Genaro Graña-Gil5, Juan Sánchez-Bursón6, Maria Rosa Juliá7, Ricardo Blanco8, Ana-Celia Barnosi-Marín9, Roser Solans10, Patricia Fanlo11, Monica Rodríguez Carballeira12, Teresa Camps13, Santos Castañeda14, Javier Martín15, Maria-Francisca González-Escribano16. 1. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain. 2. Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain. 3. Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain. 4. Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain. 5. Servicio de Reumatología, Complejo Hospitalario Universitario, A Coruña, Spain. 6. Servicio de Reumatología, Hospital Universitario de Valme, Sevilla, Spain. 7. Servei d´Inmunología. Hospital Universitari Son Espases, Palma de Mallorca, Spain. 8. Servicio de Reumatología, Hospital Marqués de Valdecilla, Santander, Spain. 9. Servicio de Medicina Interna, Hospital de Torrecárdenas, Almería, Spain. 10. Servicio de Medicina Interna, Hospital Vall d´Hebron, Barcelona, Spain. 11. Servicio de Medicina Interna, Hospital Virgen del Camino, Pamplona, Spain. 12. Servicio de Medicina Interna, Hospital Universitari Mútua, Terrassa, Spain. 13. Servicio de Medicina Interna, Hospital Universitario Carlos Haya, Málaga, Spain. 14. Servicio de Reumatología, Hospital de la Princesa, Madrid, Spain. 15. Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain. 16. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain. mariaf.gonzalez.sspa@juntadeandalucia.es.
Abstract
OBJECTIVES: Behçet's disease (BD) is an immune-mediated and complex disease which has been associated with HLA class I molecules although other genes such as IL23R and IL10 have also been involved in the susceptibility to BD. Recently, an association of variants of the JAK1 and TNFAIP3 genes with the disease has been reported in the Chinese Han population. The aim of the present work was to asses whether the association described in Asian populations is replicated in Europeans. METHODS: This study includes a total of 1155 Spanish subjects of European origin (372 BD and 783 unrelated healthy individuals). Patients were recruited from different hospitals and controls were collected in the same geographic regions and they matched with patients in age and gender. A total of five SNPs, two in the JAK1 gene: rs2780815 and rs310241 and the other three in the TNFAIP3: rs10499194, rs9494885 and rs610604, were included in this study. The genotyping of these SNPs was performed using a real time PCR system (TaqMan® SNP Genotyping Assays). RESULTS: No statistically significant differences were found when the patient and control groups were compared. The distribution of the risk alleles was similar in patients with and without eye manifestations and in patients with and without HLA-B*51. CONCLUSIONS: The association of variants of the genes JAK1 and the TNFAIP3 with BD which has been described in the Chinese population was not replicated in Europeans.
OBJECTIVES: Behçet's disease (BD) is an immune-mediated and complex disease which has been associated with HLA class I molecules although other genes such as IL23R and IL10 have also been involved in the susceptibility to BD. Recently, an association of variants of the JAK1 and TNFAIP3 genes with the disease has been reported in the Chinese Han population. The aim of the present work was to asses whether the association described in Asian populations is replicated in Europeans. METHODS: This study includes a total of 1155 Spanish subjects of European origin (372 BD and 783 unrelated healthy individuals). Patients were recruited from different hospitals and controls were collected in the same geographic regions and they matched with patients in age and gender. A total of five SNPs, two in the JAK1 gene: rs2780815 and rs310241 and the other three in the TNFAIP3: rs10499194, rs9494885 and rs610604, were included in this study. The genotyping of these SNPs was performed using a real time PCR system (TaqMan® SNP Genotyping Assays). RESULTS: No statistically significant differences were found when the patient and control groups were compared. The distribution of the risk alleles was similar in patients with and without eye manifestations and in patients with and without HLA-B*51. CONCLUSIONS: The association of variants of the genes JAK1 and the TNFAIP3 with BD which has been described in the Chinese population was not replicated in Europeans.