血浆同型半胱胺酸水平和5,10-亚甲基四氢叶酸还原酶基因多态性与原发性下肢深静脉血栓形成的相关性研究  

Relationship Between Homocysteine Level,5,10-Methylenetetrahydrofolate Reductase Gene Polymorphism With Primary Lower Extremity Deep Venous Thrombosis Formation

作　　者：郑永红[1] 陈群[1] 朱德晓 张世袍[3] 

机构地区：[1]福建省立医院心血管内科,福建省福州市350001 [2]泉州市一医院心血管内科 [3]三明市第二医院心血管内科

出　　处：《中国循环杂志》2014年第3期209-212,共4页Chinese Circulation Journal

摘　　要：目的:探讨血浆同型半胱氨酸(Hcy)水平及5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与原发性下肢深静脉血栓形成的关系。方法 :选择原发性下肢深静脉血栓患者220例(病例组)和同期对照者240例(对照组),收集年龄、性别和体重等临床资料,测定空腹血糖、血清总胆固醇、纤维蛋白原和D二聚体等生化指标,采用酶联免疫吸附法测定血浆Hcy水平,并应用聚合酶链反应-限制性片段长度多态性方法进行MTHFR C677T基因多态性的分析。两组年龄、性别、体质指数、空腹血糖和血清总胆固醇差异均无统计学意义(P>0.05),病例组纤维蛋白原、D-二聚体和血浆Hcy值高于对照组(P<0.05)。结果 :MTHFR TT基因型在病例组的分布频率为16.8%高于对照组6.7%,差异有统计学意义(P<0.05)。病例组CT基因型、TT基因型与CC基因型相比血浆Hcy水平均明显升高,差异有统计学意义(P<0.05);而在对照组中只有TT基因型与高于CC基因型,差异有统计学意义(P<0.05)。无论是CC基因型、CT基因型或TT基因型,病例组的血浆Hcy水平均高于对照组(P<0.05)。结论 :血浆高Hcy水平是原发性下肢深静脉血栓形成的危险因素。MTHFR C677T基因多态性中TT基因型可能是原发性下肢深静脉血栓形成的一个重要风险遗传因子。Objective： To explore the relationship between homocysteine （Hcy） level, 5,10-methylenetetrahydrofolate reductase （MTHFR） gene polymorphism with primary lower extremity deep venous thrombosis （LEDVT） formation. Methods： Our research included 2 groups, LEDVT group, n=220 patients and Control group, n=240 healthy subjects with the matched age, gender and body weight. The fasting blood glucose （GLU）, total cholesterol （TC）, fibrinogen （Fng） and D-dimer were determined, plasma Hey level was measured by ELISA, MTHFR polymorphisms were detected by PCR-restriction fragment length polymorphism （PCR-RFLP） in both groups. Results： The age, gender, BMI, GLU and TC levels were similar between 2 groups, P〉0.05 and the Fng, D-dimer and Hcy levels were higher in LEDVT group than those in Control group, P〈0.05. The distribution frequency of MTHFR TT genotype was higher in LEDVT group than Control group, 16.8% vs 6.7%, P〈0.05. The patients with genotypes of CT, TT and CC in LEDVT group had the higher Hcy level than those in Control group, P〈0.05. While in Control group, the TT genotype had the higher Hcy level than that in CC genotype, P〈0.05. Conclusion： Increased plasma Hcy level was the risk factor for LEDVT formation and the TT polymorphism of MTHFR might be one of the important genetic risk factors.

关 键 词：下肢深静脉血栓形成 同型半胱胺酸 5  10-亚甲基四氢叶酸还原酶基因 

分 类 号：R54[医药卫生—心血管疾病]