title: Association of mannose-binding lectin gene polymorphisms with Kawasaki disease in the Japanese.
abstract: OBJECTIVE
  Kawasaki disease (KD) is a systemic vasculitis in childhood; its etiology is unknown. The possibility that KD is an infectious disease has been discussed and investigated for decades, in light of the implication that infections are involved in the pathogenesis of KD. Young children rely on their innate immune system for protection against virus and micro-organisms. Human mannose binding lectin (MBL) is a C-type serum lectin synthesized by the liver as an acute phase protein and it plays an important role in the innate immune system. Here, we investigate the relationship between the MBL gene polymorphisms and the occurrence of KD in the Japanese population.
  
  
  METHODS
  The frequencies of the genotypes, defined as mutations in codons 52, 54 and 57, and the functional promoter variants of the MBL were determined in 45 patients with KD.
  
  
  RESULTS
  The MBL codon-54 polymorphism frequency of heterozygote (GGC/GAC) and promoter variants were significantly higher in the KD group than that in the control group (P < 0.05). Neither group showed codon 52 nor 57 polymorphisms.
  
  
  CONCLUSIONS
  It is possible that mutations of the MBL gene might be related to the trigger of the pathogenesis of Kawasaki disease.
authors.affiliation: Department of Pediatrics, Tokyo Medical University, Tokyo, Japan. sato115@tokyo-med.ac.jp
authors.forename: Satoshi
authors.initials: S
authors.lastname: Sato
authors.forename: Hisashi
authors.initials: H
authors.lastname: Kawashima
authors.forename: Yasuyo
authors.initials: Y
authors.lastname: Kashiwagi
authors.forename: Tao
authors.initials: T
authors.lastname: Fujioka
authors.forename: Kouji
authors.initials: K
authors.lastname: Takekuma
authors.forename: Akinori
authors.initials: A
authors.lastname: Hoshika
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D007223:Infant; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic
chemical_list: D037601:Mannose-Binding Lectin