MTHFR C677T、MTRR A66G和PAI-14G/5G基因多态性与皖南地区人群缺血性脑卒中关联性研究

Association of MTHFR C677T,MTRR A66G and PAI-14G/5G gene polymorphism with ischemic stroke in southern Anhui population

目的探讨MTHFR C677T、MTRR A66G与PAI-14G/5G基因多态性与皖南地区人群缺血性脑卒中发生风险的关系。方法回顾性收集皖南医学院第一附属医院2020年8月至2022年1月入院并进行缺血性脑卒中风险基因检测的患者,排除非皖南地区及病例资料不全者,共计纳入754例患者,其中614例伴有缺血性脑卒中定义为卒中组,140例无缺血性脑卒中定义为对照组。采用原位杂交荧光染色法分别检测MTHFR C677T、MTRR A66G和PAI-14G/5G的基因分型,并采用IBM SPSS Statistics 28.0对其基因型分布和等位基因频率与缺血性卒中风险的相关性进行统计分析。结果脑卒中组MTHFR C677T的基因型(CC、CT、TT)和T等位基因、PAI-14G/5G的基因型(4G4G、4G5G、5G5G)和4G等位基因频率与对照组均有统计学差异(P<0.05),MTRR A66G基因多态性对缺血性脑卒中的发生风险没有影响(P>0.05);基因分型MTHFR TT和PAI-14G/4G、4G/5G基因型缺血性脑卒中的发生风险均较高,其发生风险分别是MTHFR CC和PAI-15G/5G基因型组合的6.775倍(95%CI:1.871~24.531,P=0.001)和4.419倍(95%CI:1.629~11.986,P=0.002)。结论MTHFR C677T的T等位基因和PAI-14G/5G的4G等位基因可能增加皖南地区人群缺血性脑卒中发生风险。

Objective To investigate the relationship between the combination of MTHFR C677T,MTRR A66G and PAI-14G/5G gene polymorphism and the risk of ischemic stroke in the population from the southern Anhui.Methods Patients who were admitted to the First Affiliated Hospital of Wannan Medical College from August 2020 to January 2022 and underwent ischemic stroke risk gene testing were retrospectively collected,excluding those who were not from the southern Anhui and those with incomplete case data.A total of 754 patients from the southern area of Anhui province were included in this study,of whom 614 patients with ischemic stroke were defined as a stroke group and 140 patients without ischemic stroke were defined as a control group.In situ hybridization fluorescence staining was used to detect the MTHFR C677T,MTRR A66G and PAI-14G/5G genotype.Statistical analysis in genotype distribution and the association of allele frequency with the risk of ischemic stroke were performed with IBM SPSS Statistics 28.0.Results There were statistically significant differences in genotype(CC,CT,TT)and T allele frequency of MTHFR C677T in stroke group compared with control group(P<0.05),as well as genotype(4G4G,4G5G,5G5G)and 4G allele frequency of PAI 14G/5G(P<0.05).MTRR A66G gene polymorphism had no effect on the risk of ischemic stroke(P>0.05).The genotypic combination of MTHFR TT and PAI-14G/4G or PAI-14G/5G had higher risk of ischemic stroke,and their odds ratios were 6.775(95%CI:1.871~24.531,P=0.001)times and 4.419(95%CI:1.629~11.986,P=0.002)times of MTHFR CC and PAI-15G/5G genotype combination.Conclusion The T allele of MTHFR C677T and the 4G allele of PAI-14G/5G might be increase the risk of ischemic stroke in the population from the southern Anhui.