title: Single nucleotide polymorphisms of Ficolin 2 gene in Behçet's disease.
abstract: BACKGROUND
  Genetic susceptibility to Behçet's disease (BD) is well documented for HLA-B51 positivity. However, BD is not a simple hereditary disease and it is exaggerated by exogenous stimuli such as microorganisms' infections. Ficolin 2 is a lectin that binds to the surface of microbial cells and kills microbial cells through the activation of complement system. Novel single nucleotide polymorphisms (SNPs) of human Ficolin 2 gene (FCN2 gene) have been recently identified in Caucasian people.
  
  
  OBJECTIVE
  The aim of the study was to elucidate the contribution of FCN2 gene in the pathogenesis of BD.
  
  
  METHODS
  The frequencies of genotypes and alleles of FCN2 gene SNPs in the promoter regions (-987, -602, -557, -64, -4) and exon 8 (+6359, +6424) were examined in 83 patients with BD and 64 healthy controls by genotyping with a DNA sequencing method.
  
  
  RESULTS
  There were no significant differences in genotype and allele frequencies of FCN2 gene SNPs between BD patients and healthy controls. No significant differences in genotype and allele frequencies of FCN2 gene SNPs were detected among different clinical subgroups in BD patients. Significant differences in allele frequencies of FCN gene SNPs at both -557 and -64 sites in the promoter regions were found between HLA-B51 positive groups and HLA-B51 negative groups of BD patients.
  
  
  CONCLUSIONS
  The significant differences in allele frequencies of FCN2 gene SNPs in the promoter lesions (-557 and -64 sites) among HLA-B51 positive BD patients may reveal the possibility that ficolin may contribute to the innate immunity of BD among HLA-B51 haplotypes in BD patients.
authors.affiliation: Department of Dermatology, School of Medicine, Fukushima Medical University, Hikarigaoka-1, Fukushima 960-1295, Japan.
authors.forename: Xixue
authors.initials: X
authors.lastname: Chen
authors.forename: Yasunobu
authors.initials: Y
authors.lastname: Katoh
authors.forename: Koichiro
authors.initials: K
authors.lastname: Nakamura
authors.forename: Noritaka
authors.initials: N
authors.lastname: Oyama
authors.forename: Fumio
authors.initials: F
authors.lastname: Kaneko
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Endo
authors.forename: Teizo
authors.initials: T
authors.lastname: Fujita
authors.forename: Tomomi
authors.initials: T
authors.lastname: Nishida
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Mizuki
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000235:genetics* / Q000276:immunology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D015235:HLA-B Antigens / Q000097:blood; D059949:HLA-B51 Antigen; D006239:Haplotypes; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D037102:Lectins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000097604:Ficolins
chemical_list: D015235:HLA-B Antigens; D059949:HLA-B51 Antigen; D037102:Lectins; D000097604:Ficolins