哺乳动物雷帕霉素靶蛋白基因rs1883965位点多态性与川崎病的关联性研究

Association of mammalian target of rapamycin gene locus rs1883965 polymorphism with kawasaki disease

目的探讨哺乳动物雷帕霉素靶蛋白(mTOR)基因rs1883965位点多态性与川崎病(KD)的关联性。方法本研究为病例对照研究,选取2012年1月至2015年12月,在中南大学湘雅三医院住院治疗及门诊随访的100例川崎病(KD组)汉族患儿及100例中南大学湘雅三医院健康管理中心体检的中国汉族健康儿童(健康对照组),应用PCR扩增及基因测序的方法,对其mTOR基因的多态性进行检测;根据有无冠脉损伤,将川崎病分为冠脉损伤组(KD-CAL组,n=20)和无冠脉损伤组(KD-WO组,n=80)。应用卡方检验比较各组间构成比差异。结果KD组mTOR基因rs1883965位点的CC、CT、TT基因型分布频率分别为81.0%、19.0%、0%,C、T等位基因频率分别为90.5%、9.5%,健康对照组mTOR基因rs1883965位点的CC、CT、TT基因型分布频率分别为85.0%、14.0%、1.0%,C、T等位基因频率分别为92.0%、8.0%,KD组与健康对照组比较,差异无统计学意义(χ~2=1.85,0.28;均P>0.05)。KD-CAL组mTOR基因rs1883965位点的CC、CT、TT基因型分布频率分别为80.0%、20.0%、0%,C、T等位基因频率分别为90.0%、10.0%;KD-WO组mTOR基因rs1883965位点的CC、CT、TT基因型分布频率分别为81.2%、18.8%、0%,C、T等位基因频率分别为90.6%、9.4%,KD-CAL组与KD-WO组比较,差异无统计学意义(χ~2=0.02,0.02;均P>0.05)。结论本研究未发现mTOR基因rs1883965位点多态性与川崎病的发生及其冠脉损伤的发生存在明显的关联性。

Objective To investigate the genetic association of mammalian target of rapamycin（mTOR） gene locus rs1883965 polymorphism with kawasaki disease（ KD）. Methods This is a casecontrol study,100 patients with KD were enrolled from inpatients and follow-up outpatients who visited the Third Xiangya Hospital of Central South University during January 2012 to December 2015,and 100 healthy subjects were enrolled from the health management center of the Third Xiangya Hospital of Central South University in this study. The genotype of locus rs1883965 of mTOR was detected by polymerase chain reaction and gene sequencing. Results For locus rs1883965 polymorphism in mTOR gene,there were no significant differences between KD patients and the controls in genotype frequencies of CC,CT and TT（81.0%,19.0%,0%; 85.0%,14.0%,1.0%）,and allele frequencies of C and T（90.5%,9.5%; 92.0%,8.0%）（ χ2= 1.85,0.28,all P 0.05）. For locus rs1883965 polymorphism in mTOR gene,KD patients with coronary artery lesion（CAL） in genotype frequencies of CC,CT and TT（80.0%,20.0%,0.0%） and allele frequencies of C and T（90.0%,10.0%）,and KD patients without CAL in genotype frequencies of CC,CT and TT（ 81.2%,18.8%,0%） and allele frequencies of C and T（90.6%,9.4%）. There were no significant differences between the two groups（χ2= 0. 02,0. 02,all P 〉0. 05）. Conclusion No association is found between rs1883965 polymorphism in mTOR gene and the risk of KD and its complication of CAL in this study.