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川崎病病儿ITPKC和CASP3基因多态性对冠状动脉损伤易感性诊断价值

Value of ITPKC/CASP3 gene polymorphisms in diagnosis of susceptibility to coronary artery injury in children with Kawasaki disease
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摘要 目的探讨ITPKC和CASP3基因多态性与儿童川崎病冠状动脉损伤易感性间的关联,并分析其对冠状动脉损伤的诊断价值。方法2020年6月—2023年6月,选取新乡医学院第一附属医院收治的川崎病病儿为研究对象,其中合并冠状动脉损伤的31例为研究组,同期未合并冠状动脉损伤的31例为对照组。比较两组ITPKC基因rs28493229位点及CASP3基因rs113420705位点的基因型与等位基因频率差异,通过显性模型、隐性模型和加性模型分析不同基因型对儿童冠状动脉损伤预测效能。结果两组病儿ITPKC基因rs28493229和CASP3基因rs113420705位点的基因型分布及等位基因频率比较,差异均有统计学意义(χ^(2)=6.332~6.923,P均<0.05)。在显性、隐性和加性3种遗传模型中,CASP3基因AA基因型与ITPKC基因CC基因型的风险评估显示,两组间差异均有显著性(OR=0.452~0.922,95%CI=(0.200~0.300)~(0.752~0.997),P均<0.05)。结论ITPKC和CASP3基因多态性与儿童川崎病冠状动脉损伤易感性显著相关,其多态性分析对儿童川崎病冠状动脉损伤具有潜在预测价值。 Objective To investigate the association between ITPKC/CASP3 gene polymorphisms and susceptibility to coronary artery injury in children with Kawasaki disease,as well as their value in the diagnosis of coronary artery injury.Methods The children with Kawasaki disease who were admitted to The First Affiliated Hospital of Xinxiang Medical College from June 2020 to June 2023 were enrolled as subjects,among whom 31 with coronary artery injury were enrolled as study group,and 31 children without coronary artery injury who were treated during the same period of time were enrolled as control group.The two groups were compared in terms of genotype and allele frequencies at the rs28493229 locus of the ITPKC gene and the rs113420705 locus of the CASP3 gene,and dominant model,recessive model,and additive model were used to investigate the efficacy of different genotypes in predicting coronary artery injury in children.Results There were significant differences between the two groups in genotype distribution and allele frequency at the rs28493229 locus of the ITPKC gene and the rs113420705 locus of the CASP3 gene(χ^(2)=6.332-6.923,all P<0.05).In the dominant,recessive,and additive models,the risk assessment of the AA genotype of the CASP3 gene and the CC genotype of the ITPKC gene showed significant differences between the two groups(OR=0.452-0.922,95%CI=0.200-0.300 to 0.752-0.997,all P<0.05).Conclusion ITPKC/CASP3 gene polymorphisms are closely associated with the susceptibility to coronary artery injury in children with Kawasaki disease,and the analysis of gene polymorphisms has a potential value in predicting the diagnosis of coronary artery injury in such children.
作者 马岩岩 汤友静 王远飞 郭佳 李培岭 MA Yanyan;TANG Youjing;WANG Yuanfei;GUO Jia;LI Peiling(Department of Paediatric Haemato-Oncology and Cardiovascular Diseases,The First Affiliated Hospital of Xinxiang Medical College,Xinxiang 453100,China)
出处 《青岛大学学报(医学版)》 2026年第1期85-89,共5页 Journal of Qingdao University(Medical Sciences)
基金 河南省医学科技攻关计划项目(LHGJ20210506)。
关键词 黏膜皮肤淋巴结综合征 冠状动脉疾病 基因 ITPKC 基因 CASP3 多态性 单核苷酸 诊断 mucocutaneous lymph node syndrome coronary artery disease genes,ITPKC genes,CASP3 polymorphism,single nucleotide diagnosis
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