title: A Single Nucleotide Polymorphism in the FOXP3 Gene Associated with Behçet's Disease in an Iranian Population.
abstract: Background: Behçet's Disease (BD) is a rare autoimmune disease that involves the dysfunction of regulatory T cells. FOXP3 is a key transcription factor in the development and function of T(reg) cells. Recent studies have shown SNPs in the FOXP3 contribute to the susceptibility to some autoimmune disorders.
  
  
  METHODS
  To clarify the association between the FOXP3 gene and the risk of BD, 50 patients diagnosed with BD and 50 healthy controls from north-western Iran were genotyped by PCR-RFLP (Mun I and Pst I) for two SNPs including rs3761547 (-3499T/C) and rs3761548 (-3279 C/A) in the promoter region of the FOXP3 gene. In addition, a 506 bp nucleotide sequence of FOXP3 promoter was analyzed.
  
  
  RESULTS
  The allele -3279 C/A was significantly associated with BD [p = 0.002; odds ratio (OR) = 3.841; 95% confidence interval (CI) 1.610 - 9.161]; whereas, there was no contribution of the FOXP3 polymorphism -3499T/C to BD [(p = 0.084); (OR = 0.348, 95% CI = 0.101 - 1.195)]. Meanwhile, sequence analysis showed 100% similarity in both controls and BD patient groups.
  
  
  CONCLUSIONS
  Therefore, the SNP rs3761548 in the FOXP3 gene appears to contribute to the risk of Behçet's disease among the north-western Iranian population.
authors.forename: Arezoo
authors.initials: A
authors.lastname: Hosseini
authors.forename: Dariush
authors.initials: D
authors.lastname: Shanehbandi
authors.forename: Mehrdad Asghari
authors.initials: MA
authors.lastname: Estiar
authors.forename: Saber
authors.initials: S
authors.lastname: Gholizadeh
authors.forename: Alireza
authors.initials: A
authors.lastname: Khabbazi
authors.forename: Hamidreza
authors.initials: H
authors.lastname: Khodadadi
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Sakhinia
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Babaloo
mesh_terms: D000328:Adult; D001483:Base Sequence; D001528:Behcet Syndrome / Q000209:etiology / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors