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目的探讨信号转导和转录激活因子-3(signal transducer and activator of transcription-3,STAT3)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与重庆地区汉族儿童川崎病(kawasaki disease,KD)易感性的关系。方法用序列特异性引物聚合酶链反应(sequence specific primers-polymerase chain reaction,SSP-PCR)分析130例重庆地区汉族川崎病患儿及147名健康儿童STAT3基因内含子11(rs2293152C/G和rs957970C/T)的SNP,统计学分析病例组与对照组之间的差异。结果川崎病组STAT3基因rs2293152C/G位点CC基因型频率(23.8%)显著高于对照组(10.2%),川崎病组rs2293152C等位基因分布频率(45.4%)显著高于对照组(34.0%,P=0.006,OR=1.612,95%CI:1.144～2.272);而STAT3 rs957970C/T位点基因型及等位基因频率分布在川崎病组和对照组间无统计学差异(P>0.05)。结论重庆地区汉族儿童的STAT3基因内含子11中rs2293152位点多态性与川崎病易感性相关,携带rs2293152C等位基因者比G等位基因携带者易罹患川崎病,而STAT3 rs957970C/T位点多态性与该地区儿童川崎病的易感性无显著相关性。
Objective To investigate the association between signal nucleotide and signal transducer and activator of transcription-3 (STAT3) single nucleotide polymorphisms (SNP) and kawasaki disease (KD) ) Susceptibility to the relationship. Methods 130 patients with Kawasaki disease in Han nationality in Chongqing and 147 healthy children with STAT3 gene intron 11 (rs2293152C / G and rs957970C) were analyzed by sequence specific primers-polymerase chain reaction (SSP-PCR) / T) SNP, statistical analysis of the difference between the case group and the control group. Results The genotype frequency of rs2293152C / G in STAT3 gene in Kawasaki disease group was significantly higher than that in control group (23.8% vs 10.2%). The frequency of rs2293152C allele in Kawasaki disease group (45.4%) was significantly higher than that in control group (34.0% , P = 0.006, OR = 1.612, 95% CI: 1.144-2.272). There was no significant difference in genotype and allele frequencies of STAT3 rs957970C / T between Kawasaki disease group and control group (P> 0.05) . Conclusion rs2293152 polymorphism in STAT3 gene in Han children in Chongqing is associated with susceptibility to Kawasaki disease, and carriers of rs2293152C allele are more susceptible to Kawasaki disease than those with G allele, whereas STAT3 rs957970C / T Polymorphism was not associated with susceptibility to Kawasaki disease in children in the area.