title: [Association of CASP3 gene single nucleotide polymorphisms with Kawasaki disease in Chinese children patients].
abstract: OBJECTIVE
  The minor allele T of rs113420705 (C/T) in caspase-3 gene (CASP3) has been found to significantly increase the risk of Kawasaki disease (KD) and complicate coronary artery lesions (CALs) in Japanese children. In this study, we have explored association of single nucleotide polymorphisms (SNPs) of CASP3 gene and clinic phenotypes of KD.
  
  
  METHODS
  A total of 238 unrelated KD patients and 364 healthy controls with matched age, gender and ethnic origins were recruited. Genotypes of the 3 SNPs were determined with PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. Allelic, genotypic and haplotypic frequencies were compared between patients and controls, patients with and without CALs, and patients resistant to and responsive to intravenous immunoglobulin (IVIG) treatment.
  
  
  RESULTS
  The T allele and T carriers of rs113420705 were significantly more common in KD patients than controls. A significant difference was also detected in haplotype distribution between patients and controls, where two haplotypes involving the T allele of rs113420705 showed higher frequencies in the patient group. Allelic and genotypic frequencies of the 3 SNPs were similar between patients with and without CALs and those resistant to and responsive to IVIG treatment.
  
  
  CONCLUSIONS
  Our results suggested that CASP3 probably plays an important role in KD. The T allele of rs113420705 may provide a useful marker for KD susceptibility, although no association between this SNP and clinical prognosis and treatment effect of KD has been found among the selected Chinese children patients.
authors.affiliation: Department of Pediatrics, Sichuan Provincial People's Hospital, Chengdu, P.R. China. qian70910@263.net
authors.forename: Qian
authors.initials: Q
authors.lastname: Peng
authors.forename: Chang-hui
authors.initials: CH
authors.lastname: Chen
authors.forename: Qing
authors.initials: Q
authors.lastname: Wu
authors.forename: Bo
authors.initials: B
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Liao
authors.forename: Cai-dan
authors.initials: CD
authors.lastname: Luo
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Hu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Zheng
authors.forename: Yan
authors.initials: Y
authors.lastname: Deng
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D053148:Caspase 3 / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C051038:Inositol 1,4,5-trisphosphate 3-kinase; D053148:Caspase 3