Mannose Binding Lectin 유전자 다형성과 가와사끼병 발병의 연관성에 관한 Pilot 연구
Association of Mannose Binding Lectin Gene Polymorphisms with the Development of Kawasaki Disease: A Pilot Study
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Purpose : We hypothesized that the mannose binding lectin gene (MBL2), a key molecule of innate immunity may contribute to the development of Kawasaki disease (KD) in early childhood. This study was performed to investigate the polymorphisms of MBL2 and the risk of developing KD in Korean children. Methods : The study subjects were 112 children with KD who were admitted to the Seoul National University Bundang Hospital between October 2003 and March 2005. The control subjects consisted of 224 anonymous, healthy Korean blood donors. Extracted genomic DNA was amplified for codon 54 of MBL2 exon 1 and alleles (a and b) were assigned via sequencing analysis. The frequency of the alleles of the MBL2 exon 1 was compared between the case and control groups. Results : The median age of patients was 27 months (range, 3 months-7 years), 45.5% were <24 months of age and 54.5% were ≥2 years. The genotype distribution reached Hardy-Weinberg equilibrium in both cases and control subjects. In the cases with KD, the genotypic frequencies of codon 54 polymorphisms were 67.9% for aa, 29.5% for ab, and 2.6% for bb. There were no significant differences in the overall distribution of the polymorphisms between the cases and the control subjects. In addition, the genotype distribution was not different according to age. Conclusions : Our findings indicate that the codon 54 polymorphism of the MBL2 gene is not likely to contribute to the risk of developing KD in Korean children. Further studies on the development of coronary artery lesions with regard to MBL2 genotypes are warranted. (Korean J Pediatr Infect Dis 2008;15:195-201)
Abstract
Purpose : We hypothesized that the mannose binding lectin gene (MBL2), a key molecule of innate immunity may contribute to the development of Kawasaki disease (KD) in early childhood. This study was performed to investigate the polymorphisms of MBL2 and the risk of developing KD in Korean children. Methods : The study subjects were 112 children with KD who were admitted to the Seoul National University Bundang Hospital between October 2003 and March 2005. The control subjects consisted of 224 anonymous, healthy Korean blood donors. Extracted genomic DNA was amplified for codon 54 of MBL2 exon 1 and alleles (a and b) were assigned via sequencing analysis. The frequency of the alleles of the MBL2 exon 1 was compared between the case and control groups. Results : The median age of patients was 27 months (range, 3 months-7 years), 45.5% were <24 months of age and 54.5% were ≥2 years. The genotype distribution reached Hardy-Weinberg equilibrium in both cases and control subjects. In the cases with KD, the genotypic frequencies of codon 54 polymorphisms were 67.9% for aa, 29.5% for ab, and 2.6% for bb. There were no significant differences in the overall distribution of the polymorphisms between the cases and the control subjects. In addition, the genotype distribution was not different according to age. Conclusions : Our findings indicate that the codon 54 polymorphism of the MBL2 gene is not likely to contribute to the risk of developing KD in Korean children. Further studies on the development of coronary artery lesions with regard to MBL2 genotypes are warranted. (Korean J Pediatr Infect Dis 2008;15:195-201)
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