[1]何玉兰,白春英.卒中后认知障碍与亚甲基四氢叶酸还原酶基因多态性关系研究[J].陕西医学杂志,2021,50(11):1387-1390，1394.[doi:DOI:10.3969/j.issn.1000-7377.2021.11.016]
　HE Yulan,BAI Chunying.Relationship between post-stroke cognitive impairment and polymorphisms of MTHFR gene[J].,2021,50(11):1387-1390，1394.[doi:DOI:10.3969/j.issn.1000-7377.2021.11.016]
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卒中后认知障碍与亚甲基四氢叶酸还原酶基因多态性关系研究
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
50
期数:
2021年11期
页码:
1387-1390，1394
栏目:
临床研究
出版日期:
2021-11-05

文章信息/Info

Title:
Relationship between post-stroke cognitive impairment and polymorphisms of MTHFR gene
作者:
何玉兰1; 2; 白春英1; 3
(1.锦州医科大学赤峰学院研究生培养基地,辽宁 锦州 121000; 2.赤峰学院附属医院神经内科,内蒙古 赤峰 024000; 3.内蒙古人类遗传病研究重点实验室,内蒙古 赤峰 024000)
Author(s):
HE Yulan; BAI Chunying
(Graduate Training Base of Chifeng College,Jinzhou Medical University,Jinzhou 121000,China)
关键词:
卒中后认知障碍;  亚甲基四氢叶酸还原酶;  基因多态性;  5-甲基四氢叶酸高半胱氨酸甲基转移酶还原酶;  简明精神状态检查量表;  同型半胱氨酸
Keywords:
Post-stroke cognitive impairment;  5; 10-methylene tetrahydrofolate reductase;  Gene polymorphism;  5-methyltetrahydrofolate-homocysteine methyltransferase reductase;  Mini-Mental State Examination;  Homocysteine
分类号:
R 743.3
DOI:
DOI:10.3969/j.issn.1000-7377.2021.11.016
文献标志码:
A
摘要:
目的:探索卒中后认知障碍(PSCI)与亚甲基四氢叶酸还原酶(MTHFR)基因多态性的关系。方法:选取急性卒中患者200例,其中6个月内发生认知障碍的患者100例作为痴呆组,6个月内未发生认知障碍的患者100例作为未痴呆组,另选取同期体检结果呈健康的健康体检者200例为正常对照组。采集所有研究对象外周血检测MTHFR及5-甲基四氢叶酸高半胱氨酸甲基转移酶还原酶(MTRR)基因型多态性,全自动化学发光免疫分析仪检测血浆同型半胱氨酸(Hcy)水平。结果:痴呆组患者血浆Hcy水平明显高于未痴呆组(P<0.05); 未痴呆组患者血浆Hcy水平明显高于对照组(P<0.05); 痴呆组A1298C位点基因型AA、AC和CC、C677T位点基因型TT、CT和CC和A66G位点基因型AA、AG和GG的分布频数与未痴呆组和对照组比较具有统计学差异(均P<0.05); 既往卒中史(OR=1.721,P=0.040)、卒中部位(OR=1.828,P=0.047)和血浆Hcy水平(OR=1.839,P=0.042)为卒中后发生PSCI的独立影响因素。结论:MTHFR及MTRR基因多态性与卒中后认知障碍的易感性和临床特症存在相关性,可作为筛选标志物。
Abstract:
Objective:To explore the relationship between post-stroke cognitive impairment(PSCI)and polymorphisms of 5,10-methylene tetrahydrofolate reductase(MTHFR)gene.Methods:A total of 200 patients with acute stroke were enrolled,including 100 cases with cognitive impairment within 6 months in dementia group and 100 cases without cognitive impairment within 6 months in non-dementia group.And other 200 healthy controls during the same period were enrolled as normal control group.The peripheral blood of all objects was collected to detect the polymorphisms of MTHFR and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase(MTRR)genotypes.The level of plasma homocysteine(Hcy)was detected by full-automatic chemiluminescence immunoassay analyzer.Results:The level of plasma Hcy in dementia group was significantly higher than that in non-dementia group(P<0.05),which was significantly higher in non-dementia group than control group(P<0.05).The differences in the distribution frequencies of AA,AC and CC at A1298C locus,TT,CT and CC at C677T locus,AA,AG and GG at A66G locus among the three groups were statistically significant(all P<0.05).The previous stroke history(OR=1.721,P=0.040),stroke site(OR=1.828,P=0.047)and level of plasma Hcy(OR=1.839,P=0.042)were independent influencing factors of PSCI.Conclusion:The polymorphisms of MTHFR and MTRR genes are related to the susceptibility and clinical characteristics of PSCI,which can be applied as screening markers.

参考文献/References:

[1] 关利利,刘爱贤,莫林宏,等.康复治疗在脑卒中后认知功能障碍中的应用效果[J].陕西医学杂志,2017,46(5):572-574.
[2] Ginsberg MD.The cerebral collateral circulation:Relevance to pathophysiology and treatment of stroke[J].Neuropharmacology,2018,134(2):280-292.
[3] 樊 凡,杨 翠,王庆松.老年缺血性脑卒中患者衰弱状态与脑卒中后认知障碍的相关性研究[J].中华老年心脑血管病杂志,2018,20(12):1253-1257.
[4] Zhang X,Bi X.Post-stroke cognitive impairment:A review focusing on molecular biomarkers[J].J Mol Neurosci,2020,70(8):1244-1254.
[5] 罗 琴,石 强,龚清平,等.“氧-针-康”综合方案治疗脑卒中后轻度认知功能障碍的临床研究[J].现代中西医结合杂志,2020,29(34):36-41.
[6] Shi D,Chen X,Li Z.Diagnostic test accuracy of the montreal cognitive assessment in the detection of post-stroke cognitive impairment under different stages and cutoffs:A systematic review and meta-analysis[J].Neurol Sci,2018,39(4):705-716.
[7] Yang SK,Song N,Wang YY,et al.Association of vitamin D receptor gene polymorphism with the risk of nephrolithiasis[J].Ther Apher Dial,2019,23(5):425-436.
[8] Kaur R,Correa ARE,Thakur S,et al.Methylene tetrahydrofolate reductase deficiency[J].Indian J Pediatr,2020,87(11):951-953.
[9] Bai J,Li L,Li Y,et al.Methylation of the promoter region of the MTRR gene in childhood acute lymphoblastic leukemia[J].Oncol Rep,2019,41(6):3488-3498.
[10] 罗 玮,刘 玲.加味涤痰汤治疗缺血性脑卒中后轻度认知障碍临床观察[J].陕西中医,2016,37(2):149-150.
[11] 李会琪,刘 红,张 恒,等.卒中后非痴呆型认知障碍与HCY,白质疏松及P300相关性研究[J].陕西医学杂志,2018,47(2):153-155,189.
[12] Shi H,Yang S,Lin N,et al.Study on maternal SNPs of MTHFR gene and HCY level related to congenital heart diseases[J].Pediatr Cardiol,2021,42(1):42-46.
[13] Xu S,Shi Q,Li B,et al.High MTHFR promoter methylation levels in men confer protection against ischemic stroke[J].Bosn J Basic Med Sci,2020,20(4):477-486.
[14] Mahmoud LB,Mdhaffar M,Frikha R,et al.Use of MTHFR C677T polymorphism and plasma pharmacokinetics to predict methotrexate toxicity in patients with acute lymphoblastic leukemia[J].Adv Clin Exp Med,2018,27(8):1061-1068.
[15] Zhang L,Fu H,Wei T.MTHFR gene polymorphism and homocysteine levels in spontaneous abortion of pregnant women[J].Am J Transl Res,2021,13(6):7083-7088.
[16] 曙 光,牛小丽.急性脑梗死患者认知障碍的相关因素分析及预防对策[J].陕西医学杂志,2017,46(12):1674-1675.
[17] Du X,Xiao L,Sun R,et al.A prospective cohort study of MTHFR C677T gene polymorphism and its influence on the therapeutic effect of homocysteine in stroke patients with hyperhomocysteinemia[J].BMC Neurol,2020,20(1):128.
[18] 孔 涛,蒋 华,信秀娟,等.缺血性脑梗死患者血清同型半胱氨酸水平与性别、高血压、亚甲基四氢叶酸还原酶基因的关系[J].临床神经病学杂志,2020,33(1):32-34.
[19] 王卫平,范卫星,施 波,等.MTHFR基因与精神分裂症及其认知功能障碍的关联研究[J].中华医学遗传学杂志,2017,34(6):905-908.
[20] 徐红强,王艳玲,王 锐.脑卒中患者MTGFR及MTRR基因多态性与Hcy水平的相关性分析[J].中国实用神经疾病杂志,2020,23(7):18-22.

备注/Memo

备注/Memo:
基金项目:内蒙古人类遗传病研究重点实验室开放课题(YC202105)
更新日期/Last Update: 2021-11-05