亚甲基四氢叶酸还原酶基因多态性与深静脉血栓形成

Methylenetetrahydrofolate reductase gene poly morphism and deep - vein thrombosis.

目的研究血浆同型半胱氨酸（Hey）水平及亚甲基四氢叶酸还原酶（MTHFR）基因多态性与深静脉血栓（DVT）形成的关系。方法采用聚合酶链反应检测101名健康对照者和69名DVT患者MTHFRC667T基因型，采用荧光偏振免疫法（FPIA）测定血浆Hcy水平。结果DVT组MTHFRC677T的TT基因型频率（20．3％）高于对照组（11．9％），两者无显著意义（P〉0．05），TT基因型不增加DVT患病的危险性，优势比OR=0．53，95％可信限0．228-1．228，DVT组血浆Hey水平为（12．2±8．7）μmol／L，明显高于对照组，（10．4±4．8）μmol／L（P〈0．05），轻度升高的同型半胱氨酸的水平增加了DVT患者的危险性，OR=2．53，95％CI1．049～6．05，两种人群MTHFRC677T的TT型血浆Hcy水平为（19．7±15．3）μmol／L和（17．2±7．8）μmol／L，均明显高于同型CC型和CT型的血浆Hcy水平（P〈0．05）。结论轻度升高的同型半胱氨酸的水平是我国北方地区汉族人DVT发病的独立危险因子，MTHFR基因C67T多态性可能与DVT无关联。

Objective To study the gene polymorphism of methylenetetrahydrofolate reductase （MTHFR） and plasma homocysteinc （Hcy） levels in patients with deep -veim thrombosis （DVT）. Methods In 69 patients with DVT and in 101 healthy controls,We anayzed the MTHFR C677T genotypes by polymerase chain reaction and Restriction fragment length polymorphism （PCR -RFLP） ,and measurd the plasma homocysttine Levels hy fluorescence,polorization immmoassay （FPIA）. Result The freqnenty of the MTHFR C677T genotype had not signifi- cant difference between DVT group and control group （20. 3% vsl 1.9%, P 〉 0. 05 ）. The plasma Hcy level was sighificantly higher in DVT group than in control group [ （ 12. 2 ± 8. 7） μmol/L vs （ 10.4 ± 4. 8 ）μ mol/L, P 〈 0. 05 ]. The odds radios （OR） of mild hyperhomocy - steinemia for DVT is 2.53 （95 % CI： 1.05± 6. 05）. Conclusion Mild hyper homocysteinemaia may be in dependent risk factor for DVT in Han nationality from northem china, MTHFR type was indepenclent risk factor for DVT.