ATP2B1基因多态性与患者发生缺血性卒中的相关性研究  

Study on association between ATP2B1 gene polymorphism and occurrence of ischemic stroke in patients

作　　者：王娓娓[1] 彭晨 陈锐[1] 张羽萍[3] WANG Wei-wei;PENG Chen;CHEN Rui;ZHANG Yu-ping(Medical Department of Shanghai the Eighth People's Hospital,Shanghai 201100,China;Department of Neurology,Shanghai the Eighth People's Hospital,Shanghai 201100,China;Department of Geriatrics,Shanghai the Eighth People's Hospital,Shanghai 201100,China)

机构地区：[1]上海市第八人民医院医务科,上海201100 [2]上海市第八人民医院神经内科,上海201100 [3]上海市第八人民医院老年科,上海201100

出　　处：《医药论坛杂志》2022年第7期11-15,共5页Journal of Medical Forum

基　　金：上海市科学技术委员会科技计划项目(21YF1433500)。

摘　　要：目的 探讨三磷酸腺苷(ATP)2B1基因多态性与患者缺血性卒中(cerebral ischemic stroke, CI)发病的相关性。方法 纳入CI患者(观察组)和体检健康者(对照组)各100例,抽取4 mL静脉血,对ATP2B1基因启动子区rs19203、rs13412和rs28313的单核苷酸多态性进行分类。检测基因型分布频率是否符合遗传平衡规律,分析等位基因及基因多态性位点与CI发生的相关性。并进一步分析ATP2B1基因多态性与CI患者不同血管内皮生长因子(VEGF)表达水平的关系。结果 观察组吸烟史、酗酒史、空腹血糖、入院收缩压及舒张压与对照组比较差异有统计学意义(P<0.05),Hardy-Weinberg分析显示3个ATP2B1基因位点的多态性符合遗传平衡分布(r^(2)<0.33)。遗传相关分析显示,ATP2B1 rs19203和rs13412多态性和等位基因与CI的发生具有统计学相关性(P<0.05),rs28313多态性和等位基因与CI的发生无明显相关(P>0.05)。rs19203和rs13412多态性与VEGF的表达水平之间存在统计学相关性(P<0.05)。结论 ATP2B1基因启动子区的rs19203和rs13412与CI的发生和VEGF表达有关。Objective To investigate the relationship between adenosine triphosphate(ATP) 2 B1 gene polymorphism and the onset of ischemic stroke(CI) in patients.Methods Enrolled 100 CI patients(observation group) and 100 healthy individuals(control group).4 mL of venous blood was drawn to classify the SNPs of rs19203,rs13412 and rs28313 in the promoter region of ATP2 B1 gene.Detected whether the frequency of genotype distribution conforms to the law of genetic balance, and analyzed the correlation between alleles and gene polymorphism loci and the occurrence of CI.And further analyze the correlation between ATP2 B1 gene polymorphism and different vascular endothelial growth factor(VEGF) expression levels in CI patients.Results The observation group had a history of smoking, alcohol abuse, fasting blood glucose, admission systolic blood pressure and diastolic blood pressure compared with the control group were statistically significant(P<0.05).Hardy-Weinberg analysis showed that the polymorphisms of the 3 ATP2 B1 gene loci were consistent.Genetic balance distribution(r^(2)<0.33).According to the results of genetic correlation analysis, the polymorphisms and alleles of ATP2 B1 rs19203 and rs13412 were statistically correlated with the occurrence of CI(P<0.05),while the polymorphisms and alleles of rs28313 were not related to the occurrence of CI(P>0.05).There was a statistical correlation between rs19203 and rs13412 polymorphisms and the expression level of VEGF(P<0.05).Conclusion rs19203 and rs13412 in the promoter region of ATP2 B1 gene are related to the occurrence of CI and the expression of VEGF.

关 键 词：三磷酸腺苷2B1基因 缺血性卒中 单核苷酸多态性 血管内皮生长因子 

分 类 号：R743.31[医药卫生—神经病学与精神病学]