title: Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
abstract: BACKGROUND
  a functional single nucleotide polymorphism (SNP) (rs28493229) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene has been linked to the susceptibility to Kawasaki disease (KD). The implication remains unclear.
  
  
  METHODS
  genotyping for the ITPKC polymorphism was conducted on 280 unrelated Taiwanese children with KD and 492 healthy ethnically and gender-matched controls. The clinical manifestations and laboratory data were systemically collected.
  
  
  RESULTS
  the GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GG:GC:CC was 236:43:1, C allele frequency: 8.04%) than those in the controls (GG:GC:CC was 454:37:1, C allele frequency: 3.96%; OR: 2.23, P = 0.001). In KD patients, those with GC or CC genotypes of SNP rs28493229 (19/44) were more likely to have reactivation at the Bacille Calmette-Guérin (BCG) inoculation site than those with GG genotypes (66/236; OR: 1.96, P = 0.044). Such association was particularly strong in patients aged <20 months (OR: 3.26, P = 0.017). The other clinical manifestations were not related to this SNP. There were 160 (57.1%) patients with coronary arterial lesions. The development and the severity of coronary arterial lesion were also not associated with this SNP. Comparison between patients with and without BCG reactivation revealed only one difference: patients with reactivation were younger.
  
  
  CONCLUSIONS
  in a cohort from a population with the world's third highest incidence of KD, we demonstrated that the C-allele of ITPKC SNP rs28493229 is associated with KD susceptibility and BCG scar reactivation during the acute phase, although its frequency is lower than that in the Japanese cohort (22.6%), suggesting this SNP contributes to KD susceptibility through induced hyperimmune function reflected in the BCG reactivation.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Ming-Tai
authors.initials: MT
authors.lastname: Lin
authors.forename: Jou-Kou
authors.initials: JK
authors.lastname: Wang
authors.forename: Jih-I
authors.initials: JI
authors.lastname: Yeh
authors.forename: Li-Chuan
authors.initials: LC
authors.lastname: Sun
authors.forename: Pei-Lung
authors.initials: PL
authors.lastname: Chen
authors.forename: Jia-Feng
authors.initials: JF
authors.lastname: Wu
authors.forename: Chien-Chih
authors.initials: CC
authors.lastname: Chang
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Lee
authors.forename: Chin-Tsuen
authors.initials: CT
authors.lastname: Shen
authors.forename: Nan-Koong
authors.initials: NK
authors.lastname: Wang
authors.forename: Chiou-Sen
authors.initials: CS
authors.lastname: Wu
authors.forename: Su-Zen
authors.initials: SZ
authors.lastname: Yeh
authors.forename: Chun-An
authors.initials: CA
authors.lastname: Chen
authors.forename: Shuenn-Nan
authors.initials: SN
authors.lastname: Chiu
authors.forename: Mei-Hwan
authors.initials: MH
authors.lastname: Wu
mesh_terms: D001500:BCG Vaccine / Q000276:immunology*; D002675:Child, Preschool; D002921:Cicatrix / Q000473:pathology*; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013624:Taiwan
chemical_list: D001500:BCG Vaccine; D017853:Phosphotransferases (Alcohol Group Acceptor); C051038:Inositol 1,4,5-trisphosphate 3-kinase