ABSTRACT
<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>