MTHFR基因多态性及血清Hcy水平与脑卒中发生的相关性研究  

Correlation between MTHFR gene polymorphism and serum Hcy level with stroke

作　　者：王宇琴[1] 冉隆梅[1] 李睛 陈金容[1] 李华萍[1] 刘丰[1] 

机构地区：[1]广州市第一人民医院老年病科,510180

出　　处：《中华生物医学工程杂志》2017年第2期158-161,共4页Chinese Journal of Biomedical Engineering

摘　　要：目的 探讨N5,N10-亚甲基四氢叶酸还原酶（MTHFR）基因677位点多态性及血清同型半胱氨酸（Hcy）水平和脑卒中之间的关系.方法 选取2015年12月至2016年8月本院住院患者及健康体检人群,共235名入组,其中77例脑卒中患者为病例组,158例非卒中人群为对照组,运用PCR-RFLP法检测入组人群的MTHFR C677T位点的多态性,同时用循环酶法检测两组人群Hcy水平.结果 MTHFR C677T在235名研究人群中存在三种基因型：正常野生型（CC型）、杂合突变型（CT型）、纯合突变型（TT型）.在病例组中上述三种基因型频率分别为：5.19%,53.25%,41.56%;对照组中则为26.58%,54.43%,18.99%,差异有统计学意义（P〈0.05）.MTHFR 677T等位基因携带者在病例组人群中的比例明显高于对照组（P〈0.001）,特别对于MTHFR 677TT基因型人群更易发生卒中（OR=11.2,95%CI：3.580~35.031）;病例组Hcy水平明显高于对照组,且CT基因型和TT基因型人群具有更高的患病风险,均P〈0.05.结论 广州地区汉族人群中MTHFR T等位基因携带者血浆Hcy水平明显高于C等位基因携带者,T等位基因可能是卒中发生的危险因素.结合MTHFR基因型和Hcy水平可用于脑卒中的早期危险评估.Objective To investigate the correlation between N5,N10-methylene tetrahydrofolate reductase（MTHFR）gene 677 locus polymorphism and plasma homocysteine（Hcy）level with stroke. Methods The patients hospitalized in our hospital between December 2015 and August 2016,and the healthy subjects were included in the study（n=235）. Seventy-seven cases of stroke were included as the study group,and 158 cases of non-stroke were included as the control group. The polymorphism of MTHFR C677T locus was determined by PCR-RFLP,and the Hcy level was determined by cyclic enzyme method. Results MTHFR C677T contained three genotypes in the 235 subjects：the normal wild type（CC type）,heterozygous mutant type（CT type）,and homozygous mutant type（TT type）. The frequency of the three genotypes was 5.19%,53.25%and 41.56%in the study group,and 26.58%,54.43% and 18.99% in the control group,respectively,and the difference was statistically significant （P〈0.05）. The proportion of MTHFR 677T allele carriers in the study group was significantly higher than that in the control group（P〈0.001）,and the stroke was more likely to occur in the population with MTHFR 677TT genotype was more prone to（OR=11.2,95%CI：3.580~35.031）. The Hcy level in the study group was significantly higher than that in the control group,and the population with CT genotype and TT genotype had a higher risk of the disease（all P〈0.05）. Conclusion The plasma Hcy level of MTHFR T allele carriers in the Han population of Guangzhou is significantly higher than that of C allele carriers ,and theT allele may be a risk factor for stroke. MTHFR genotype and Hcy level can be used for the early risk assessment of stroke.

关 键 词：卒中 多态性 单核苷酸 半胱氨酸 MTHFR基因 

分 类 号：R743.3[医药卫生—神经病学与精神病学]