摘要
目的分析PEAR1基因多态性与缺血性脑卒中相关性,为缺血性脑卒中发病机制的进一步研究提供科学依据,为疾病防治提供新的思路。方法收集昆明医科大学附属延安医院神经内科门急诊或住院确诊为急性缺血性脑卒中患者150例作为实验组,同期150例健康体检者作为对照组,应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法分析PEAR1基因rs12041331位点单核苷酸多态性(SNP),并测序验证基因型。结果卡方检验显示缺血性脑卒中组和正常对照组PEAR1基因rs12041331G>A位点GG、GA、AA基因型和G、A等位基因频率间的差异有统计学意义(P<0.05);缺血性脑卒中组的糖尿病、高血压比例较正常对照组多,同型半胱氨酸(HCY)水平较正常对照组高,差异有统计学意义(P<0.05);Logistic回归分析显示PEAR1基因rs12041331G>A位点突变可能是缺血性脑卒中发生的危险因素。结论PEAR1基因rs12041331G>A位点基因多态性与缺血性脑卒中发生相关。rs12041331G>A位点基因可作为缺血性脑卒中风险预测的候选基因。
Objective To analyze the correlation between PEAR1 gene polymorphism and ischemic stroke,so as to provide a scientific basis for further research on the pathogenesis of ischemic stroke,and provide new ideas for disease prevention and treatment Methods A total of 150 patients with acute ischemic stroke in the Department of Neurology,Yan’an hospital affiliated to the Kunming Medical University were selected as the experimental group and 150 healthy persons as the control group,a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)was used to analyze the Single-nucleotide polymorphism at rs12041331 in PEAR1 gene.The genotypes were verified by sequencing.Results Chi-square test results showed that between the ischemic stroke group and control group,the distribution of GG,GAandAA genotypes and allele frequency of G,A on PEAR1 gene rs12041331G>A polymorphism site had significant differences(p<0.05).The proportion of diabetes mellitus and hypertension and the level of homocysteine homocysteine(HCY)in the ischemic stroke group were significantly higher than those in the control group(p<0.05).Logistic regression analysis showed that mutations at the PEAR1 gene rs12041331G>A site might be a risk factor for ischemic stroke.Conclusion The polymorphism of PEAR1 gene rs12041331G>A site is associated with ischemic stroke Genetic predisposition.The PEAR1 gene rs12041331G>A site may be a candidate gene for ischemic stroke risk prediction.
作者
张云芳
庄杉杉
余艳
李铮
吴晓明
聂晓改
ZHANG Yunfang;ZHUANG Shanshan;YU Yan;LI Zheng;WU Xiaoming;NIE Xiaogai(Dept.of Medical Laboratory,Yan'an Hospital Affiliated to Kunming Medical University,Kunming Yunnan 650051,China)
出处
《昆明医科大学学报》
CAS
2023年第11期135-139,共5页
Journal of Kunming Medical University
基金
昆明市卫生健康委员会卫生科研课题基金资助项目(2022-11-01-003)。
关键词
缺血性脑卒中
单核苷酸多态性
聚合酶链反应-限制性片断长度多态性
Ischemic stroke
Single-nucleotide polymorphism
Polymerase chain reaction-restriction fragment length polymorphism
