Association Of Single Nucleotide Polymorphism In TGFBR2Gene With Kawasaki Disease And Coronary Artery Lesions

Objective:Based on genome-wide association study,Single nucleotide polymorphi-sm (SNP) rs1495592that markers in TGFBR2gene was found has relationship with KD susceptibility and coronary artery lesion.The relevance was studied in other ethnical groups。But the replication studies to replicate the genetic association between SNP rs1495592in TGFBR2gene and KD susceptibility and coronary artery lesion in Chinese Han population is inadequate. Our study was designed to investigate the association of the TGFBR2gene SNP rs1495592with Kawasaki disease (KD) susceptibility and coronary artery lesion in Chinese Han children.Methods:A case-control study was performed. The case group included35children who were diagnosed as KD between October2010and April2012in the Tianjin Children’s Hospital. Twenty-five age-and gender-matched children who came from clinical department waiting for operation were enrolled as the control group. All KD patients were divided into coronary artery lesion(CAL)group (n=14)and no coronary artery lesion (NCAL)group(n=21).All the study subjects are Chinese Han children. Genomic DNA was prepared from peripheral venous blood (2mL) using a genomic DNA isolation reagent kit. Polymerase chain reaction (PCR) and gene sequence analysis were applied to detect the single nucleotide polymorphism of TGFBR2gene rs1495592. The differences about allele and genotype frequencies in different groups were compared.Results:TGFBR2gene SNP rs1495592was detected in all the subjects. There were three genotypes (CC, CT and TT) at this SNP position. For TGFBR2gene SNP rs 1495592, there were no significant differences in the genotype frequency (x2=0.566,P=0.452) and allele frequency ((x2=0.216,P=0.642)between the KD and healthy children (P>0.05). There was significant difference in genotype frequency distribution between the CAL and NCAL groups (x2=5.546, P=0.019)(P＜0.05),but without significant difference in allele frequency distribution between the two groups (x2=3.673, P=0.055).(P>0.05). T allele (OR=0.168) increased risk for CAL in Chinese Han children with KD. C allele frequency in Chinese Han KD children with CAL is higher than C allele frequency in Chinese Han KD children without CAL.Conclusions:1. Polymorphisms of TGFBR2gene SNP rs1495592may be not associated with KD susceptibility in Chinese Han children (OR=1.497,95%CI:0.522～4.292)2. Polymorphisms of TGFBR2gene SNP rs1495592may be associated with CAL KD susceptibility in in Chinese Han KD children (OR=0.168,95%CI:0.036～0.791).3. The allele frequency T maybe is not the high risk faction of the CAL group (P>0.05).