MTHFR C677T与PAI-1 4G/5G基因多态性与缺血性脑卒中发生风险的相关性研究

Association of MTHFR C677T and PAI-1 4G/5G gene polymorphism with risk of ischemic stroke

目的探讨MTHFRC677T与PAI-1 4G/5G基因多态性联合与山东地区人群缺血性脑卒中发生风险的关系。方法回顾性收集济南市中心医院2016年6月至2020年1月入院并进行基因多态性检测的患者,本研究共纳入468例山东地区人群,其中292例伴有缺血性脑卒中定义为卒中组,176例无缺血性脑卒中定义为对照组。卒中组男181例,女111例,中位年龄71.00岁;对照组男87例,女89例,中位年龄66.50岁。采用原位杂交荧光染色脱氧核糖核酸测序法分别检测MTHFRC677T和PAI-1 4G/5G的基因分型,并采用SPSS 25.0对其基因型分布和等位基因频率、基因多态性与缺血性卒中风险的相关性进行统计分析。结果MTHFRTT与PAI-1 4G/4G或4G/5G基因型组合缺血性脑卒中的发生风险均较高,其发生风险分别是MTHFRCC与PAI-1 5G/5G基因型组合的4.946倍(P=0.007)和3.193倍(P=0.033)。结论MTHFRC677T的T等位基因与PAI-1 4G/5G的4G等位基因可能与缺血性脑卒中易感性相关。

Objective To investigate the relationship between the combination of MTHFR C677T and PAI-1 4G/5G gene polymorphism and the risk of ischemic stroke in the population from Shandong area.Methods Patients admitted to Jinan Central Hospital from June 2016 to January 2020 and tested for gene polymorphism were retrospectively collected.A total of 468 patients from Shandong area were included in this study,of whom 292 patients with ischemic stroke were defined as a stroke group and 176 patients without ischemic stroke were defined as a control group.In the stroke group,there were 181 males and 111 females,with a median age of 71.00 years old.In the control group,there were 87 males and 89 females,with a median age of 66.50 years old.In situ hybridization fluorescence staining deoxyribonucleic acid sequencing method was used to detect the genotypes of MTHFR C677T and PAI-1 4G/5G.Statistical analysis in genotype distribution,allele frequency,and the association of gene polymorphism with the risk of ischemic stroke were performed with SPSS 25.0.Result The genotypic combination of MTHFR TT and PAI-1 4G/4G or PAI-1 4G/5G had higher risk of ischemic stroke,and their odds ratios were 4.946 times of MTHFR CC(P=0.007)and 3.193 times of PAI-1 5G/5G(P=0.033).Conclusion T allele of MTHFR C677T and 4G allele of PAI-1 4G/5G might be associated with the susceptibility to ischemic stroke in the population from Shandong area.