MTHFR基因多态性及Hcy与房颤伴卒中的关系

目的探讨MTHFR基因突变引起Hcy水平升高与中国人种房颤对缺血性卒中的发生是否存在相互关系。方法纳入非瓣膜性房颤和房颤伴缺血性卒中的患者及正常对照组，采用PCR——RFLP的方法研究MTHFR基因677位点上C／T碱基的突变情况。两组计量资料用t检验，多组计量资料用方差分析进行整体比较。结果（1）房颤、房颤伴卒中患者MTHFR基因多态性与血浆Hcy有关，1Tr型Hcy水平（21．38±18．75μmoVL）明显高于CT（14．46±4．70μmol／L），CC（14．33±5．09μmol/L）型；（2）房颤伴卒中组血浆Hcy水平（18．15±13．74μmol/L）较房颤组（13．76±5．12μmol/L）升高明显。结论（1）房颤伴卒中患者血浆Hcy水平明显升高，高Hcy水平可能是非瓣膜性房颤发生卒中的危险因素；（2）MTHFR基因C677T位点突变纯合基因型TT型较CT基因型、CC基因型血浆Hcy升高明显，示TT基因型MTHFR酶活性最低；（3）MTHFR基因C677T位点多态性与房颤伴卒中无关。

MTHFR Polymorphisms and Plasma Homocysteine Level in Atrial Fibrillation with Stroke

Objective The aim of the present study was to investigate the association between MTHFR gene polymorphisms which increases Hcy level and nonvalvular atrial fibrillation with ischemic stroke in Chinese. Methods We recruited nonvalvular atrial fibrillation patients and atrial fibrillation with ischemic stroke patients, And normal control , we used the way of PCR-RFLPfor MTHFR genotype. Statistical analysis of the data was carried out using SPSS11.5 on a PC. Measurement data were evaluated by Student＇s t-test and One way ANOVA was explored for multiple groups. Results （ 1 ）Hcy plasma levels in TT genotype （21.38 ± 18.75umol/1） was higher than the others （ CC, 14.33±5.09 μmol/L,CT, 14.46±4.70 μmol/ L） ; （2） Hey levels were significantly higher in atrial fibrillation with ischemic stroke patients group than in atrial fibrillation patients group （ 13.76±5.12 txmol/L, versus 18.15±13.74, P = 0. 025 〈 0.05 ） , and both of them were higher than in controls. Conclusion（1） Our results demonstrate an association between elevated Hey and AF patients with stroke, and tHey is a risk factor for ischemic complications of AF;（2）TT genotype of MTHFR gene in 677 geneloci was more significantly correlated with plasma Hey level than CT, CC genotype. The activity of MTHFR was the loweer in TT geno-type than in other genotypes ; （ 3 ） There was no correlation between C677T MTHFR Polymorphisms and Atrial Fibrillation patients with Stroke.