老年心脑血管病影像学诊断与MTHFR基因多态性及同型半胱氨酸水平的相关性

Relationship between imaging diagnosis,MTHFR gene polymorphism and Hcy level in elderly patients with cardiovascular and cerebrovascular diseases

目的探讨心脑血管疾病影像学诊断与MTHFR基因多态性及同型半胱氨酸(Hcy)水平的相关性,为临床老年心脑血管疾病的早期诊治及实施预防管理提供依据。方法检测864例60岁以上住院患者的MTHFR基因多态性,筛选处于65~89岁的294例老年患者并采集其颈部彩色多普勒超声影像、颅脑CT/MRI影像及病案诊断等信息;对入选病例行血浆Hcy水平检测。结果脑梗死组CC型、CT型和TT型3种基因型所占百分率依次为43.38%、43.80%、12.82%,与非脑梗死组56.82%、36.36%、6.82%相比差异有统计学意义(χ^2=18.438,P <0.001)。各疾病观察组TT型患者血浆Hcy水平均显著高于CC型(P <0.05)。颈动脉内膜中层厚度(IMT)与血浆Hcy水平无相关性(P> 0.05);各基因型IMT以及颈动脉内膜分级差异均无统计学意义。结论 TT基因型患者的血浆Hcy水平显著高于CC基因型;MTHFR基因多态性与脑梗死、冠心病发生风险密切相关,但与颈动脉粥样硬化的发生未见直接相关性。

Objective To investigate the relationship between MTHFR gene polymorphism,imaging diagnosis and homocysteine(Hcy)level with cardiovascular and cerebrovascular diseases in elderly patients. To provide evidence for early diagnosis and treatment of clinical senile cardiovascular and cerebrovascular diseases and implementation of preventive management. Methods A total of 864 in patients over 60 years old were determined the MTHFR gene polymorphism. Screening 294 elderly patients aged 65~89 and their neck color Doppler ultrasound images,brain CT/MRI and medical record diagnosis were collected. Homocysteine in selected cases plasma were detected. Results The percentages of CC,CT and TT genotypes in the cerebral infarction group were43.38%,43.80%,and 12.82%,which were significantly different from those in the non-cerebral infarction group(56.82%,36.36%,and 6.82%)(χ^2= 18.438,P < 0.001). Plasma Hcy level of TT genotype in all disease observation groups were significantly higher than that of CC genotype(P < 0.05). Carotid intima-media thickness(IMT)and plasma Hcy level were no correlation(r^2= 0.021,P > 0.05). There was no significant difference about IMT or carotid atherosclerosis grading in three genotypes. Conclusions Plasma Hcy level of patients with TT genotype are significantly higher than that with CC genotype;MTHFR gene polymorphism is closely related to the risk of cerebral infarction and coronary heart disease. However,there is no direct correlation between the occurrence of carotid atherosclerosis and MTHFR gene polymorphism.