STAT3基因多态性与重庆地区汉族儿童川崎病易感性的关系

Association of polymorphism of STAT3 gene with susceptibility Kawasaki disease in Chongqing,China

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 explore the association of polymorphism of signal transducer and activator of transcription-3 （STAT3） gene with the susceptibility of Kawasaki disease （KD） in Han children in Chongqing, China. Methods The single nucleotide polymorphisms （SNPs） of STAT3 intron 11 （rs2293152C/G and rs957970C/T） in 130 patients with KD and 147 healthy controls were detected by sequence specific primers-polymerase chain reaction （SSP-PCR）, and their statistical differences were analyzed. Results The frequency of homozygous CC genotype at rs2293152C/G in STAT3 of the KD patients were significantly higher than that of the controls （23.8% vs 10.2%, P=0.02）. The frequency of C allele at rs2293152C/C was higher in the KD patients than in the controls （45.4% vs 34.0%, P=0.006, OR=1.612, 95%CI： 1.144 to 2.272）. Meanwhile, there was no statistical difference in the frequencies of allele and genotypes at rs957970C/T in STAT3 between the KD patients and controls （P〉0.05）. Conclusion This study confirms the association between the STAT3 gene polymorphism at rs2293152 and the susceptibility of KD in Han children in Chongqing, China. The children with rs2293152C allele are more vulnerable to KD, and there is no significant association between polymorphism of rs957970 in STAT3 gene and the susceptibility of KD.