目的：探讨H-型高血压患者中N5，N10-亚甲基四氢叶酸还原酶（MTHFR）C677T位点突变与血浆同型半胱氨酸（homocysteine， Hcy）及冠心病之间的关系。方法选择60例经冠状动脉造影的H-型高血压患者，分为冠心病组33例，非冠心病组27例，应用基因芯片技术检测2组MTHFR基因型，并比较2组MTHFR基因型分布及血浆Hcy水平。结果冠心病组的MTHFR基因CC型频率为27.3%， CT型频率为48.5%，TT型频率为24.2%。非冠心病组CC型频率为40.7%，CT型频率为48.2%，TT型频率为11.1%，冠心病组TT型基因及T等位基因频率高于非冠心病组，但是两组差异没有统计学意义（P＞0.05）。冠心病组的血浆平均Hcy浓度（19.82±16.2）μmol/L高于非冠心病组（15.78±5.63）μmol/L （P=0.022＜0.05），TT型的患者平均血浆Hcy浓度（32.58±23.06）μmol/L高于CC（14.64±6.93）μmol/L及CT（14.76±3.65）μmol/L组（P＜0.05），差异有统计学意义。结论 MTHFR基因多态性与H-型高血压患者冠心病的发生无明显相关性， MTHFR基因突变导致高同型半胱氨酸血症。高同型半胱氨酸血症是冠心病的独立危险因素。%Objective To investigate the relationship between the gene polymorphism of N5,10-methylene tetrahydrofolate reductase (MTHFR) site-specific mulation C667T, homocysteine(Hcy) and coronary heart disease in H-type hypertension patients.Methods In this case-control study, we selected 60 H-type hypertension patients after Coronary angiography, Al patients were divided into two groups, CHD group(n=33)and non-CHD(n=27). To detected MTHFR C677T by gene chip technology, MTHFR genotype distributionb, the level of plasma Hcy was compared between the two groups.Results In CHD and non-CHD group,the frequencies of MTHFR C677T genotype were CC 27.3% vs 40.7%, CT 48.58% vs 48.2%, and TT 24.2% vs 11.1%. The frequency of T alele and TT homozygotes in MTHFR in CHD group was higher than that in non-CHD group, but there was no signiifcant difference between the two groups(P>0.05).②In CHD group, the plasma Hcy level(19.82±16.2)μmol/L was higher than that(15.78±5.63)μmol/L of the non-CHD group(P=0.022<0.05).③The plasma Hcy concentration of individuals with TT genotype(32.58±23.06)μmol/L was higher than that of individuals with CC(14.64±6.93)μmol/L and CT(14.76±3.65)μmol/L genotype(P<0.05).Conclusions The polymorphism of MTHFR C677T are not related to coronary heart disease in H-type hypertension patients. MTHFR gene mutations can lead to high homocysteine levels. HHcy were al independent risk factors of CHD.
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