title: [Association of single nucleotide polymorphism in TGFBR2 gene with Kawasaki disease and coronary artery lesions].
abstract: OBJECTIVE
  To examine the single nucleotide polymorphism (SNP) (rs1495592) in transforming growth factor-beta receptor 2 (TGFBR2) gene in children, and to investigate its association with Kawasaki disease (KD) and coronary artery lesions (CALs).
  
  
  METHODS
  Thirty-five KD patients, 14 of whom had CALs (CAL subgroup), were selected as the case group, and 25 healthy age-matched children were selected as the control group. The SNP (rs1495592) in TGFBR2 gene was studied by gene sequencing. The association of SNP (rs1495592) with KD and (CALs) was analyzed based on the sequencing results.
  
  
  RESULTS
  There were no significant differences in genotype frequency distribution (χ(2)=0.566, P=0.452) and allele frequency distribution (χ(2)=0.216, P=0.642) between the two groups. Genotypes in the CAL subgroup included CC (21.4%) and CT+TT (78.6%), while genotypes in the non-CAL subgroup included CC (61.9%) and CT+TT (38.1%). There was significant difference in genotype frequency distribution between the two groups (χ(2)=5.546, P=0.019), but without significant difference in allele frequency distribution (χ(2)=3.673, P=0.055).
  
  
  CONCLUSIONS
  The SNP (rs1495592) in TGFBR2 gene may not be associated with development of KD in children, but it is associated with CALs in children with KD.
authors.affiliation: Graduate School of Tianjin Medical University, Tianjin 300070, China. etzhy@yahoo.com.cn.
authors.forename: Cui-Ping
authors.initials: CP
authors.lastname: Shi
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Zhang
mesh_terms: D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D015398:Signal Transduction; D016212:Transforming Growth Factor beta / Q000502:physiology
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D016212:Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II