DNA聚合酶kappa(POLK)基因rs5744724多态性与缺血性中风气虚证及血瘀证的关联分析

Correlation Analysis of Polymorphism of DNA Polymerase kappa(POLK) Gene rs5744724 and Ischemic Stroke Syndrome of Qi Deficiency and Blood Stasis

目的分析DNA聚合酶kappa(POLK)基因rs5744724多态性与缺血性中风(IS)中医证候及其数量性状的关联。方法共纳入汉族缺血性中风患者774例,正常对照793例。IS患者中医证候诊断采用《中风病辨证诊断标准》。运用MassARRAY SNP基因分型技术对POLK基因rs5744724多态性进行基因分型检测。使用HITACHI日立7600全自动生化分析仪及StAgO Capact血凝仪测定样本血脂及凝血指标。遗传关联的分析采用PLINK软件进行。结果 POLK基因rs5744724的基因型频率在IS气虚证+IS血瘀证的病例与对照组之间的分布差异有统计学意义(P<0.05)。POLK基因rs5744724多态性与缺血性中风气虚证[显性模型:OR(95%CI)=0.60(0.36-0.99),P=0.044]、血瘀证[加性模型:OR(95%CI)=0.71(0.52-0.97),P=0.029;显性模型:OR(95%CI)=0.68(0.47-0.98),P=0.038;等位模型:OR(95%CI)=0.70(0.51-0.96),P=0.025]发生风险的关联性均有统计学意义;校正性别、年龄后,POLK基因rs5744724多态性与缺血性中风气虚证[显性模型:ORadj(95%CI)=0.59(0.36-0.97),Padj=0.037]、血瘀证[加性模型:ORadj(95%CI)=0.69(0.51-0.94);Padj=0.020;显性模型:ORadj(95%CI)=0.66(0.46-0.95),Padj=0.027]发生风险均显著关联。POLK基因rs5744724多态性与缺血性中风患者收缩压水平的具有统计学关联。结论 POLK基因rs5744724多态性可能影响中国汉族人缺血性中风气虚证及血瘀证的发生。

Objective To analyze the correlation between DNA polymerase kappa(POLK) gene rs5744724 polymorphism and traditional Chinese medicine syndrome and its quantitative characters in ischemic stroke(IS). Methods A total of 774 Han IS patients and 793 normal controls were included. The TCM syndromes of IS patients were diagnosed by the standard of syndrome differentiation and diagnosis of apoplexy. The genotyping of POLK gene rs5744724 was detected by using MassARRAY SNP genotyping technique. Blood lipids and clotting indexes were determined by HITACHI HITACHI 7600 automatic biochemical analyzer and StAgO Capact hemagglutinometer. PLINK software was used to analyze the genetic association. Results The genotype frequency of POLK gene rs5744724 was significantly different from that of the control group(P<0.05). Polymorphism of POLK gene rs5744724 and syndrome of Qi deficiency in IS[dominant model: OR(95%CI)=0.60(0.36-0.99),P=0.044] and blood stasis[adative model: OR(95%CI)=0.71(0.52-0.97),P=0.029;Dominant model: OR(95%CI)= 0.68(0.47-0.98), P=0.038;Allele model: OR(95%CI)=0.70(0.51-0.96), P=0.025]. The correlation of the risk of occurrence was statistically significant. After adjusting for gender and age, POLK gene rs5744724 polymorphism was associated with Qi deficiency syndrome[dominant model: ORadj(95%CI)=0.59(0.36-0.97), Padj=0.037] and blood stasis syndrome[additie model: ORadj(95%CI)=0.69(0.51-0.94),Padj=0.020;Dominant model: ORadj(95%CI)=0.66(0.46-0.95), Padj=0.027]. The occurrence risks were significantly correlated. There was a statistical association between POLK gene rs5744724 polymorphism and systolic blood pressure level in IS patients. Conclusion POLK gene rs5744724 polymorphism may affect the occurrence of Qi deficiency and blood stasis in Chinese Han people with IS.