脑梗死患者同型半胱氨酸水平与亚甲基四氢叶酸还原酶基因C677T多态相关性研究

The Analysis of Homocysteine and MTHFR C677T Gene Polymorphism in Patients with Cerebral Infarction

目的研究甘油三酯(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL)、脂蛋白a[LP(a)]、同型半胱氨酸(Hcy)水平及5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性与脑梗死的相关性。方法选择2013年1月至2013年11月入住延安大学附属医院的脑梗死患者255例为脑梗死组,以同期在我院体检正常者128例为对照组,分别检测两组血脂四项、Hcy水平及MTHFR C677T基因多态性。结果脑梗死组患者血清Hcy、TG、TC、LDL、LP(a)水平分别为19.76±5.24μmol/L、1.92±0.39mmol/L、5.05±0.66mmol/L、3.14±0.53mmol/L、305.48±82.83mg/L,均明显高于对照组(P<0.001);TT、TC、CC基因型分布频率分别为33.0%、43.1%、23.9%,等位基因T、C频率分别为54.5%、45.5%,与对照组相比,差异均有统计学意义(P<0.05);脑梗死组各基因型Hcy水平均高于对照组,差异有统计学意义(P<0.001),其中TT型Hcy浓度最高,CT型次之,CC型最低,差异有统计学意义(P<0.001)。结论脑梗死患者Hcy及血脂四项水平均显著增高,MTHFR C677T多态性TT基因型致Hcy水平增高,可能是引发脑梗死的重要遗传因素,血脂四项结合Hcy及MTHFR C677T基因多态性检查可更好的用于脑梗死易感人群筛查。

Objective To study the relationship of triglyceride（TG）,total cholesterol（TC）,low-density lipoprotein cholesterol（LDL）,lipoprotein a [LP（a） ],homocysteine（Hcy） levels and 5,10-methylenetetrahydrofolate reductase（MTHFR） C677 T gene polymorphism with cerebral infarction.Methods Chose 255 patients who were hospitalized with cerebral infarction from January 2013 and November 2013 in Yan＇an University Affiliated Hospital as observational group,and normal 128 cases in the same period as control group.Blood lipids,Hcy levels and MTHFR C677 T gene polymorphism were determined.Statistical software SPSS 22.0 were analyzed.Results TG,TC,LDL,LP（a） levels of observational group were as follows：19.76 ± 5.24μmol/L,1.92 ± 0.39 mmol/L,5.05 ± 0.66 mmol/L,3.14 ± 0.53 mmol/L,305.48 ±82.83 mg/L respectively,which were much higher than that in normal controls（P 0.001）.The genotype frequencies of TT,CT,CC were 33.0%,43.1%,23.9% respectively.The frequencies of T and C alleles were 54.5% and 45.5%.The differences were statistical significant（P〈0.05）.The homocysteine（Hcy）levels were higher in cerebral infarction patients than that in normal controls.The differences were statistical significant（P 0.001）,among which the TT genotypes had the highest homocysteine（Hcy） levels,the CT genotype was the second,and the CC genotype was the lowest.Conclusion The level of blood lipids in patients with cerebral infarction was significantly higher.MTHFR C677 T polymorphism genotype TT had increased Hcy levels.Genetic factors might play an important role in cerebral infarction.Combined detection of blood lipids,Hcy and MTHFR C677 T polymorphism can be used for better screening the susceptible population of cerebral infarction.