title: Lack of association of TNFAIP3 and JAK1 with Behçet's disease in the European population.
abstract: OBJECTIVE
  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.
authors.affiliation: Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Ortiz-Fernández
authors.affiliation: Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.
authors.forename: José-Raul
authors.initials: JR
authors.lastname: García-Lozano
authors.affiliation: Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.
authors.forename: Marco-Antonio
authors.initials: MA
authors.lastname: Montes-Cano
authors.affiliation: Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Conde-Jaldón
authors.affiliation: Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain.
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Francisco-Jose
authors.initials: FJ
authors.lastname: García-Hernández
authors.affiliation: Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain.
authors.forename: Gerard
authors.initials: G
authors.lastname: Espinosa
authors.affiliation: Servicio de Reumatología, Complejo Hospitalario Universitario, A Coruña, Spain.
authors.forename: Genaro
authors.initials: G
authors.lastname: Graña-Gil
authors.affiliation: Servicio de Reumatología, Hospital Universitario de Valme, Sevilla, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Sánchez-Bursón
authors.affiliation: Servei d´Inmunología. Hospital Universitari Son Espases, Palma de Mallorca, Spain.
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Juliá
authors.affiliation: Servicio de Reumatología, Hospital Marqués de Valdecilla, Santander, Spain.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.affiliation: Servicio de Medicina Interna, Hospital de Torrecárdenas, Almería, Spain.
authors.forename: Ana-Celia
authors.initials: AC
authors.lastname: Barnosi-Marín
authors.affiliation: Servicio de Medicina Interna, Hospital Vall d´Hebron, Barcelona, Spain.
authors.forename: Roser
authors.initials: R
authors.lastname: Solans
authors.affiliation: Servicio de Medicina Interna, Hospital Virgen del Camino, Pamplona, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Fanlo
authors.affiliation: Servicio de Medicina Interna, Hospital Universitari Mútua, Terrassa, Spain.
authors.forename: Monica
authors.initials: M
authors.lastname: Rodríguez Carballeira
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Carlos Haya, Málaga, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Camps
authors.affiliation: Servicio de Reumatología, Hospital de la Princesa, Madrid, Spain.
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
authors.affiliation: Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain. mariaf.gonzalez.sspa@juntadeandalucia.es.
authors.forename: Maria-Francisca
authors.initials: MF
authors.lastname: González-Escribano
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D053613:Janus Kinase 1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; D044465:White People / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C507904:JAK1 protein, human; D053613:Janus Kinase 1; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3