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深静脉血栓形成患者的高同型半胱氨酸血症与亚甲基四氢叶酸还原酶(C677T)基因多态性

Hyperhomocysteinemia and of Methylenetetrahydrofolate Reductase (C677T) Genetic Polymorphism in Patients with Deep Vein Thrombosis.

作者信息

Brezovska-Kavrakova Julijana, Krstevska Marija, Bosilkova Gordana, Alabakovska Sonja, Panov Saso, Orovchanec Nikola

机构信息

Institute of Medical and Experimental Biochemistry, Medical Faculty, Skopje, Republic of Macedonia.

出版信息

Mater Sociomed. 2013;25(3):170-4. doi: 10.5455/msm.2013.25.170-174.

DOI:10.5455/msm.2013.25.170-174
PMID:24167429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3804432/
Abstract

AIM

To determine the concentration of total plasma homocysteine (tHcy) as well as different genotypes of methylenetetrahydrofolate reductase MTHFR (C677T) in healthy subjects and patients with deep vein thrombosis (DVT).

MATERIAL AND METHODS

The investigation comprised a total of 160 subjects divided in two main groups: 80 healthy subjects (control group) and 80 patients with deep vein thrombosis. Concentration of tHcy was determined by spectrophotometric cyclic enzymatic method and mutation of MTHFR (C677T) gene was examined by polymerase chain reaction according to Schneider.

RESULTS

The results obtained for plasma tHcy in the control group were 11.62±3.43 μmol/L, while tHcy level was significantly higher in patients with deep vein thrombosis as compared to the control group, 15.19±3.63 μmol/L (р<0.001). The analysis of the results has shown that MTHFR (C677T) genetic polymorphism was responsible for mild to moderate hyperhomocysteinemia in the majority of subjects.

CONCLUSION

The level of tHcy in the examined patients was significantly higher in comparison with the control group. Multiple regression analysis has shown that tHcy level in CT and TT genotypes of MTHFR (C677T) was statistically higher in comparison with CC genotype of MTHFR (C677T) in both, the control group and the DVT patients.

摘要

目的

测定健康受试者和深静脉血栓形成(DVT)患者血浆总同型半胱氨酸(tHcy)浓度以及亚甲基四氢叶酸还原酶MTHFR(C677T)的不同基因型。

材料与方法

该研究共纳入160名受试者,分为两个主要组:80名健康受试者(对照组)和80名深静脉血栓形成患者。采用分光光度循环酶法测定tHcy浓度,并根据施奈德法通过聚合酶链反应检测MTHFR(C677T)基因的突变情况。

结果

对照组血浆tHcy结果为11.62±3.43μmol/L,而深静脉血栓形成患者的tHcy水平明显高于对照组,为15.19±3.63μmol/L(р<0.001)。结果分析表明,MTHFR(C677T)基因多态性是大多数受试者轻度至中度高同型半胱氨酸血症的原因。

结论

与对照组相比,所检查患者的tHcy水平明显更高。多元回归分析表明,在对照组和DVT患者中,MTHFR(C677T)的CT和TT基因型的tHcy水平在统计学上高于MTHFR(C677T)的CC基因型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/3804432/f9ec3c40f33b/MSM-25-3-170_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/3804432/f9ec3c40f33b/MSM-25-3-170_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/3804432/f9ec3c40f33b/MSM-25-3-170_F1.jpg

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