ITPKC基因位点与川崎病并冠状动脉损害的实验研究

发布时间：2018-03-14 07:57

本文选题：川崎病　切入点：ITPKC基因　出处：《天津医科大学》2012年硕士论文　论文类型：学位论文

【摘要】：目的：探讨ITPKC基因rs28493229位点是否与中国汉族川崎病并冠状动脉损害有相关性,从分子生物学角度探求川崎病并冠状动脉损害的发病机制,为预防川崎病并冠状动脉损害的发生及早期诊断提供可靠科学依据。方法：应用聚合酶链反应结合直接测序技术,对30例中国汉族川崎病患儿和种族、性别、年龄相匹配的25例中国汉族健康儿童ITPKC基因rs28493229位点进行突变检测。结果： 1、本研究发现,川崎病组ITPKC基因rs28493229位点的C等位基因频率较对照组显著增高,差异有统计学意义(χ2=7.19,P0.05,OR=5.22,95%CI=1.56～17.44),C等位基因的OR值大于1(OR=5.22)；川崎病组基因型分布较对照组显著增高,差异有统计学意义(χ2=7.62，，P0.05),其中携带C等位基因的GC和CC基因型的OR值均大于1(10.29,2.67)。 2、本研究发现,冠脉损害组ITPKC基因rs28493229位点的C型等位基因频率较无冠脉损害组显著增高,差异有统计学意义(χ2=7.33,P0.05,OR=5.50,95%CI=2.88～18.77),C等位基因的OR值大于1(OR=5.50)；冠脉损害组基因型分布较无冠脉损害组显著增高,差异有统计学意义(χ2=8.28,P0.05),其中携带C等位基因的GC和CC型基因型的OR值均大于1(8.75,2.91)。结论： 1、川崎病组ITPKC基因rs28493229位点的C等位基因频率较对照组显著增高,差异有统计学意义(χ2=7.19,P0.05),C等位基因OR值大于1(OR=5.22),提示川崎病发生的危险度增加；川崎病组ITPKC基因rs28493229位点的基因型分布较对照组显著增高,差异有统计学意义(χ2=7.62,P0.05),其中携带C等位基因的GC和CC基因型OR值均大于1(10.29，,2.67),说明携带C等位基因的GC、CC基因型可使得川崎病发生的危险度增加。 2、冠脉损害组ITPKC基因rs28493229位点的C型等位基因频率较无冠脉损害组显著增高,差异有统计学意义(χ2=7.33,P0.05),C等位基因OR值大1(OR=5.50),提示川崎病并冠状动脉损害发生的危险度增加；冠脉损害组ITPKC基因rs28493229位点的基因型分布较无冠脉损害组显著增高,差异有统计学意义(χ2=8.28,P0.05),其中携带C等位基因的GC和CC型基因型的OR值均大于1(8.75,2.91),说明携带C等位基因的GC、CC基因型可使得川崎病并冠状动脉损害发生的危险度增加。
[Abstract]:Objective:. To explore whether the rs28493229 locus of ITPKC gene is related to Kawasaki disease and coronary artery damage in Chinese Han nationality, and to explore the pathogenesis of Kawasaki disease with coronary artery damage from the molecular biological point of view. To provide a reliable scientific basis for the prevention of Kawasaki disease associated with coronary artery damage and early diagnosis. Methods:. Polymerase chain reaction (PCR) combined with direct sequencing technique was used to detect ITPKC gene rs28493229 loci in 30 Chinese Han children with Kawasaki disease and 25 healthy children with matched race, sex and age. Results:. 1. In this study, we found that the C allele frequency of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that of control group (蠂 ~ 2 / 7.19 ~ (7.19) P 0.05) (蠂 ~ 2 / 7 ~ (7.19)) P 0.05 ~ (5) ~ (5) ~ (5) C allele OR value was higher than that of control group, and the genotype distribution of Kawasaki disease group was significantly higher than that of control group, and the genotype distribution of Kawasaki disease group was higher than that of control group. The difference was statistically significant (蠂 ~ 2 / 7.62P _ (0.05)). The OR values of GC and CC genotypes with C allele were higher than that of 1.10.29 / 2.67. 2. In this study, we found that the frequency of type C allele C of ITPKC gene rs28493229 locus was significantly higher in the coronary artery lesion group than that in the non-coronary lesion group. There was significant difference (蠂 ~ 2 / 7.33 / P _ (0.05) P = 5.50 / 95) and the OR value of C allele of C allele was higher than that of non-coronary artery lesion group (蠂 ~ 2 = 7.33 / P = 5.50 / 95), and the genotype distribution of coronary artery lesion group was significantly higher than that of non-coronary artery lesion group (蠂 ~ 2 / 2 = 8.28 / P = 0.05), and the OR of GC and CC genotype with C allele was higher than that of C allele / C genotype > 1 / 8.75 / 2.91g / L. Conclusion:. 1. The C allele frequency of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that of the control group (蠂 ~ 2 ~ (7.19) P _ (0.05) C allele OR = 5.22), which suggested that the risk of Kawasaki disease was increased. The genotype distribution of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that in control group. The difference was statistically significant (蠂 ~ 2 / 7.62P _ (0.05)). The odds ratios of GC and CC genotypes with C allele were higher than that of 1 ~ (10. 29) C allele (2.67), which indicated that the GCnCC genotype with C allele could increase the risk of Kawasaki disease (Kawasaki disease). 2. The frequency of type C allele C of ITPKC gene rs28493229 locus in coronary artery lesion group was significantly higher than that in non-coronary artery lesion group (蠂 2 = 7.33%, P 0.05C allele OR = 5.50), which suggested that the risk of Kawasaki disease complicated with coronary artery damage was increased. The genotype distribution of ITPKC gene rs28493229 locus in coronary artery lesion group was significantly higher than that in non-coronary artery lesion group. The difference was statistically significant (蠂 ~ 2 = 8.28, P 0.05). The odds ratios of GC and CC genotypes with C allele were higher than that of C allele (P < 0.01), which indicated that the GCC-CC genotype with C allele could increase the risk of Kawasaki disease and coronary artery damage.
【学位授予单位】：天津医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.4

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