MTHFR基因遗传变异与缺血性脑卒中易感性的相关性  

Correlation between the MTHFR genetic variation and susceptibility to ischemic stroke

作　　者：黄宏山 韦春丽 易雪丽[3] 韦贵将[3] Huang Hongshan;Wei Chunli;Yi Xueli;Wei Guijiang(Department of Ultrasound Medicine,People’s Hospital of Baise,Southwest Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Neurology,The Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Medical Laboratory,The Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)

机构地区：[1]广西百色市人民医院,右江民族医学院附属西南医院超声医学科,广西百色533000 [2]右江民族医学院附属医院神经内科,广西百色533000 [3]右江民族医学院附属医院检验科,广西百色533000

出　　处：《右江民族医学院学报》2022年第4期498-503,共6页Journal of Youjiang Medical University for Nationalities

基　　金：广西自然科学青年基金项目(2019JJB140034);百色市科学研究与技术开发计划项目(百科20193121)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因遗传变异与缺血性脑卒中(ischemic stroke,IS)易感性的关系。方法采用单碱基延伸PCR技术,对各200例IS患者和对照者的MTHFR基因遗传变异位点rs9651118和rs1801133进行分型,比较rs9651118和rs1801133基因型和等位基因型频率在IS患者和对照者中的分布差异。结果在IS患者和对照者中,rs9651118基因型和等位基因型频率分布差异无统计学意义(P>0.05)。但是,相比rs1801133 CC基因型,TT基因型或者TT+CT基因型显著增加IS罹患风险(OR=2.51,95%CI:1.14~5.55,P=0.023;OR=2.40,95%CI:1.10~5.23,P=0.027)。此外,相比C等位基因型,T等位基因型亦显著增加IS罹患风险(OR=1.44,95%CI:1.04~2.00,P=0.028)。结论MTHFR基因遗传变异位点rs1801133可能与IS易感性相关,该结果可能对IS风险预测具有一定的指导作用。Objective To explore the relation between the genetic variantion of the methylenetetrahydrofolate reductase(MTHFR)gene and susceptibility to ischemic stroke(IS).Methods PCR with single base extension was adopted to detect the genotypes of variant loci rs9651118 and rs1801133 of the MTHFR gene among 200 IS patients and 200 controls.This study moved on to compare the distribution differences of genotype and allele frequencies of rs9651118 and rs1801133 between IS patients and controls.Results There was no significant difference in the frequency distribution of genotypes and alleles of the loci rs9651118(P>0.05).However,compared with the rs1801133 CC genotype,the TT genotype or TT+CT genotype significantly increased the risk of IS(OR=2.51,95%CI:1.14~5.55,P=0.023;OR=2.40,95%CI:1.10~5.23,P=0.027).In addition,compared with the C allele,the T allele also significantly increased the risk of IS(OR=1.44,95%CI:1.04~2.00,P=0.028).Conclusion The genetically variant loci rs1801133 of the MTHFR gene may be related to the susceptibility to IS,and the results may provide some guidance for the prediction of IS risk.

关 键 词：缺血性脑卒中 亚甲基四氢叶酸还原酶 基因 变异体 

分 类 号：R743[医药卫生—神经病学与精神病学]