【摘要】 目的:探讨IL-1β基因启动子区–31T/C位点多态性与川崎病发病的相关性。方法:应用聚合酶链反应-限制性片段长度多态性检测100例川崎病患儿(川崎病组)和100例健康儿童(对照组)的IL-1β–31位点的基因型,并比较两组间基因型及等位基因频率的差异性。结果:IL-1β–31位点基因型分布和等位基因频率在川崎病组与对照组间差异均有统计学意义(均P<0.05)。川崎病组中TT基因型携带者的风险是TT基因非携带者的0.37倍(χ2=5.65,P<0.01,OR=0.37,95%CI:0.16~0.85),但IL-1β–31位点基因型分布和等位基因频率在川崎病组中合并冠状动脉损伤者与无冠状动脉损伤者之间差异均无统计学意义(均P>0.05)。结论:IL-1β–31T/C位点多态性与川崎病的遗传易感性相关,TT基因型携带者患川崎病的风险较低。更多还原

【Abstract】 Objective: To explore the correlation between the –31T/C polymorphisms of IL-1β gene and thesusceptibility of Kawasaki disease(KD).Methods: The polymorphism at –31C/T site of IL-1β gene was genotyped with the method of polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) in 100 KD patients(KD group) and 100 healthy children(control group). The differences in genotype distribution and allele frequency between the KD group and the control group were analyzed by χ2 test.Results: There were significant differences in genotype and allele frequencies for IL-1β gene polymorphism at –31C/T site between the KD group and the control group(all P<0.05). The riskof KD in the KD group with TT genotype was 0.37 times as that with the CT and CC genotypes(χ2=5.65, P<0.005, OR=0.37, 95%CI 0.16 to 0.85). But there was no significant difference in genotype and allele frequencies for IL-1β genepolymorphism at –31 site between the KD group with coronary artery lesion and the KD group without coronary artery lesion(all P>0.05).Conclusion: The polymorphism at –31T/C site of IL-1β gene is associated with genetic susceptibility of KD. The KD patients with TT genotype are at low risk.更多还原