[1]余 飞,杨丽娜,韦必晓,等.桂西地区人群MTHFR基因多态性及血清同型半胱氨酸水平与不同脑卒中类型发病的相关性[J].医学信息,2023,36(20):103-108.[doi:10.3969/j.issn.1006-1959.2023.20.019]
　YU Fei,YANG Li-na,WEI Bi-xiao,et al.Correlation Between of MTHFR Gene Polymorphism, Serum Homocysteine Levels and Different Types of Stroke in Western Guangxi Population[J].Journal of Medical Information,2023,36(20):103-108.[doi:10.3969/j.issn.1006-1959.2023.20.019]
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桂西地区人群MTHFR基因多态性及血清同型半胱氨酸水平与不同脑卒中类型发病的相关性()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
36卷
期数:
2023年20期
页码:
103-108
栏目:
论著
出版日期:
2023-10-15

文章信息/Info

Title:
Correlation Between of MTHFR Gene Polymorphism, Serum Homocysteine Levels and Different Types of Stroke in Western Guangxi Population
文章编号:
1006-1959（2023）20-0103-06
作者:
余 飞; 杨丽娜; 韦必晓; 等
（百色市人民医院生殖医学中心1，检验科2，广西 百色 533000）
Author(s):
YU Fei; YANG Li-na; WEI Bi-xiao; et al.
(Department of Reproduction Medicine Center1,Department of Clinical Laboratory2,People’s Hospital of Baise,Baise 533000,Guangxi,China)
关键词:
亚甲基四氢叶酸还原酶; 基因多态性; 同型半胱氨酸; 脑卒中
Keywords:
Methylene tetrahydrofolate reductase; Gene polymorphism; Homocysteine; Stroke
分类号:
R743.33
DOI:
10.3969/j.issn.1006-1959.2023.20.019
文献标志码:
A
摘要:
目的 探讨桂西地区人群亚甲基四氢叶酸还原酶（MTHFR）基因677C/T位点多态性、血清同型半胱氨酸（Hcy）水平与不同脑卒中类型的关联性，并分析MTHFR基因677C/T位点多态性与血清Hcy水平是否存在相关性。方法 选取2019年1月-2022年1月入住百色市人民医院神经内科并确诊为脑卒中的患者1413例，依据卒中类型分为缺血性卒中（IS）组（945例）和出血性卒中（HS）组（468例）。另选取同期体检健康者735例作为对照组。分别检测IS组、HS组及对照组MTHFR 677C/T基因多态性和血清Hcy水平，比较三组MTHFR 677C/T基因多态性分布差异及血清Hcy水平，分析MTHFR 677C/T基因多态性对血清Hcy水平的影响。结果 IS组、HS组及对照组MTHFR677C/T位点基因型和等位基因频率分布比较，差异均无统计学意义（P＞0.05）；三组男、女性别间MTHFR基因677C/T位点多态性比较，差异无统计学意义（P＞0.05）；IS组和HS组血清Hcy水平均高于对照组，差异有统计学意义（P＜0.05），IS组血清Hcy水平与HS组比较，差异无统计学意义（P＞0.05）；IS组和HS组中，携带TT基因型患者血清Hcy水平高于携带CC及CT基因型患者，差异有统计学意义（P＜0.05），携带CT基因型患者血清Hcy水平与CC基因型患者比较，差异无统计学意义（P＞0.05）；IS组和HS组各基因型Hcy水平均高于对照组，差异均有统计学意义（P＜0.05）。IS组各基因型血清Hcy水平与HS组比较，差异无统计学意义（P＞0.05）。结论 桂西地区人群IS和HS的发生与血清Hcy高水平密切相关，MTHFR 677C/T位点TT基因型可能是血清Hcy水平升高的易感基因，但677C/T多态性与IS和HS的发生不存在关联性。
Abstract:
Objective To investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism, serum homocysteine (Hcy) level and different stroke types in western Guangxi, and to analyze the correlation between MTHFR gene 677C/T polymorphism and serum Hcy level.Methods A total of 1413 patients who were admitted to the Department of Neurology, People’s Hospital of Baise from January 2019 to January 2022 and diagnosed with stroke were selected. According to the type of stroke, they were divided into ischemic stroke (IS) group (945 patients) and hemorrhagic stroke (HS) group (468 patients). In addition, 735 healthy subjects were selected as the control group. The MTHFR 677C/T gene polymorphism and serum Hcy level in IS group, HS group and control group were detected respectively. The distribution difference of MTHFR 677C/T gene polymorphism and serum Hcy level among the three groups were compared, and the effect of MTHFR 677C/T gene polymorphism on serum Hcy level was analyzed.Results There was no significant difference in the distribution of MTHFR 677C/T genotype and allele frequency among IS group, HS group and control group (P>0.05). There was no significant difference in MTHFR 677C/T polymorphism between male and female in the three groups (P>0.05). The serum Hcy levels in the IS group and the HS group were higher than those in the control group, and the difference was statistically significant (P<0.05), while there was no significant difference in serum Hcy level between IS group and HS group (P>0.05). In the IS group and the HS group, the serum Hcy level of patients with TT genotype was higher than that of patients with CC and CT genotypes, and the difference was statistically significant (P<0.05), while there was no significant difference in serum Hcy level between patients with CT genotype and patients with CC genotype (P>0.05). The Hcy levels of each genotype in IS group and HS group were higher than those in control group, and the differences were statistically significant (P<0.05), while there was no significant difference in serum Hcy level between IS group and HS group (P>0.05).Conclusion The occurrence of IS and HS in the population of western Guangxi is closely related to the high level of serum Hcy. The TT genotype of MTHFR 677 C/T locus may be a susceptible gene for the increase of serum Hcy level, but there is no correlation between 677 C/T polymorphism and the occurrence of IS and HS.

参考文献/References:

[1]Wang YJ,Li ZX,Gu HQ,et al.China Stroke Statistics 2019:A Report From the National Center for Healthcare Quality Management in Neurological Diseases, China National Clinical Research Center for Neurological Diseases, the Chinese Stroke Association, National Center for Chronic and Non-communicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention and Institute for Global Neuroscience and Stroke Collaborations[J].Stroke Vasc Neurol,2020,5(3):211-239.[2]Moretti R,Caruso P.The Controversial Role of Homocysteine in Neurology: From Labs to Clinical Practice[J].Int J Mol Sci,2019,20(1):231.[3]Tu W,Yan F,Chao B,et al.Status of hyperhomocysteinemia in China: results from the China Stroke High-risk Population Screening Program,2018[J].Frontiers of Medicine,2021,15(6):903-912.[4]Song Y,Li B,Wang C,et al.Association between 5,10-Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Risk of Ischemic Stroke: A Meta-analysis[J].Journal of Stroke and Cerebrovascular Diseases,2016,25(3):679-687.[5]Chen M,Mao BY,Wang D,et al.Association between rs1801133 polymorphism and risk of adult ischemic stroke: Meta-analysis based on case-control studies[J].Thrombosis Research,2016,137:17-25.[6]Kang S,Zhao X,Liu L,et al.Association of the C677T polymorphism in the MTHFR gene with hemorrhagic stroke: a meta-analysis[J].Genet Test Mol Biomarkers,2013,17(5):412-417.[7]Lv QQ,Lu J,Sun H,et al.Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population[J].Genetics and Molecular Research,2015,14(2):4161-4168.[8]Abidi O,Haissam M,Nahili H,et al.Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients [J].Journal of Stroke and Cerebrovascular Diseases,2018,27(7):1837-1843.[9]Frosst P,Blom HJ,Milos R,et al.A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase[J].Nature genetics,1995,10(1):111-113.[10]Mazdeh M,Khazaie M,Omrani MD,et al.Association between methylene tetrahydrofolate reductase polymorphisms and risk of ischemic stroke[J].The International Journal of Neuroscience,2021,131(1):44-48.[11]Dribnokhodova OP,Korchagin VI,Mironov KO,et al.A comparative analysis of allele frequencies of rs1801133 and rs1801131 of MTHFR in patients with stroke and healthy people from the Moscow region[J].Zh Nevrol Psikhiatr Im S S Korsakova,2019,119(3.Vyp.2):18-23.[12]Arsene D,G?觍in?觍 G,B?觍lescu C,et al.C677T and A1298C methylenetetrahydropholate reductase (MTHFR) polymorphisms as factors involved in ischemic stroke[J].Rom J Morphol Embryol,2011,52(4):1203-1207.[13]Huang LW,Li LL,Li J,et al.Association of the methylenetetrahydrofolate reductase (MTHFR) gene variant C677T with serum homocysteine levels and the severity of ischaemic stroke: a case-control study in the southwest of China[J].J Int Med Res,2022,50(2):3000605221081632.[14]徐永华,刘艳秋,张兆振,等.江西地区育龄女性HCY水平及其亚甲基四氢叶酸还原酶基因多态性分析[J].江西医药,2020,55(2):163-165.[15]Kuriakose D,Xiao Z.Pathophysiology and Treatment of Stroke: Present Status and Future Perspectives[J].International Journal of Molecular Sciences,2020,21(20):7609.[16]Feng C,Yang Y,Yang S,et al.Effect of gene-gene and gene-environment interaction on the risk of first-ever stroke and poststroke death[J].Molecular Genetics & Genomic Medicine,2019,7(8):e846.[17]Harbuzova V,Polonikov OV,Stroǐ DO,et al.Analysis of the effect of N5, N10-methylenetetrahydrofolate reductase gene C(677)-->T polymorphism on the ischemic stroke development in persons with various risk factors[J].Fiziolohichnyi Zhurnal,2014,60(2):18-24.[18]Huang X,Qin X,Yang W,et al.MTHFR Gene and Serum Folate Interaction on Serum Homocysteine Lowering: Prospect for Precision Folic Acid Treatment[J].Arteriosclerosis,Thrombosis,and Vascular Biology,2018,38(3):679-685.[19]Jiang S,Li J,Zhang Y,et al.Methylenetetrahydrofolate reductase C677T polymorphism, hypertension and risk of stroke: a prospective, nested case-control study [J].The International Journal of Neuroscience,2017,127(3):253-260.[20]Pang H,Fu Q,Cao Q,et al.Sex differences in risk factors for stroke in patients with hypertension and hyperhomocysteinemia[J].Scientific Reports,2019,9(1):14313.

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更新日期/Last Update: 1900-01-01