Single nucleotide polymorphisms of Ficolin 2 gene in Behçet's disease.
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.
Chen
Xixue
X
Department of Dermatology, School of Medicine, Fukushima Medical University, Hikarigaoka-1, Fukushima 960-1295, Japan.
Katoh
Yasunobu
Y
Nakamura
Koichiro
K
Oyama
Noritaka
N
Kaneko
Fumio
F
Endo
Yuichi
Y
Fujita
Teizo
T
Nishida
Tomomi
T
Mizuki
Nobuhisa
N
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
D015235:HLA-B Antigens; D059949:HLA-B51 Antigen; D037102:Lectins; D000097604:Ficolins