Prothrombotic Polymorphisms and Long-Term Prognosis of Patients With Stable Ischemic Heart Disease

Genetic diagnostics is widely used for detection of risk factors of hereditary thrombophilias caused by molecular defects in the coagulation system. The hereditary thrombophilias are frequently associated with higher incidences of point mutations in hemostasis (F2 20210G>A, F5 1691G>A) and folate metabolism (MTHFR 677C>T, MTHFR 1298A>C) genes. Combinations of gene abnormalities in F2 and/or MTHFR with Leiden mutation (F5 1691G>A) significantly increase risk of thrombosis. Thus, simultaneous analysis of allele polymorphism of these genes is of clinical importance. This study has demonstrated high efficiency of microchip based multiplex real time PCR for analysis of allele specific polymorphism in hemostasis and folate metabolism genes. Using this test it is possible to analyze polymorphism of the three genes (four point mutations) in a short time; it requires a minimal quantity of DNA template and PCR reagents including DNA polymerase, and thus can be recommended for clinical laboratory diagnostics.

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Allele polymorphism analysis of hemostasis and folate metabolism genes by real-time microchip PCR

Богданов

Nikitin

Slyadnev

2016

Biochem. Moscow Suppl. Ser. B

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The role of genetic markers of thrombophilia in the development of thrombosis after coronary artery bypass graft surgery

Atmadzas

Komok

Буненков

et al. 2016

Regional blood circulation and microcirculation

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Coronary artery bypass grafting is one of the most common surgeries performed among all elective cardiac surgery operations. Starting from the first operations, thrombosis not only in the coronary arteries, but also in the venous system was the subject of attention. Over the past two decades it has become evident that the hypercoagulable state, or socalled thrombophilia is multifactorial, genetically determined disorder of the hemostatic system. This article provides an overview of studies on the role of genetic polymorphisms in the development of thrombosis after coronary artery bypass grafting.

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C677t Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Patients With St-Segment Elevation Myocardial Infarction

Митьковская

Балыш

Гусина³

et al. 2019

Sibirskij medicinskij žurnal

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The aimof the study was to identify clinical and laboratory features of the disease in patients with myocardial infarction with ST-segment elevation and C677T polymorphism in the methylenetetrahydrofolate reductase gene.Material and Methods. A total of 81 patients with ST-segment elevation myocardial infarction were examined. Clinical, laboratory, instrumental, and statistical methods were used.Conclusion. Among patients with ST-segment elevation myocardial infarction, the proportion of persons with homozygous carriership of polymorphic alleles in the MTHFR gene was 30% (genotype 677СС); and 58.02% (genotype 677СT) of patients were heterozygous carriers. Patients with homozygous carriership of polymorphic alleles in the MTHFR gene were characterized by higher values of Big endothelin-1 and homocysteine in serum compared with persons with genotype 677СС: 10.7 (4.5–14.5) pg/mL, 27 (20–28) μmol/L, and 2.7 (2.2–3.8) pg/mL, and 17 (14–20) μmol/L, respectively, p<0.05. A positive moderate force correlation was found between the carriership of polymorphic alleles MTHFR C677T and homocysteine levels (r=0.42, p<0.05) and Big endothelin-1 (r=0.45, p<0.05) in the cohort under study. In patients with homozygous carriership of polymorphic alleles in the MTHFR gene, myocardial infarction was significantly more often complicated by the development of recurrent coronary events in comparison with groups with heterozygous carriership and the absence of polymorphic alleles in this gene: 88.9% (n=8) versus 42.55% (n=20), χ2=6.5, p<0.05 and 28% (n=7), χ2=10.0, p<0.01 respectively.

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Prothrombotic Polymorphisms and Long-Term Prognosis of Patients With Stable Ischemic Heart Disease

Cited by 3 publications

References 60 publications

Allele polymorphism analysis of hemostasis and folate metabolism genes by real-time microchip PCR

Allele polymorphism analysis of hemostasis and folate metabolism genes by real-time microchip PCR

The role of genetic markers of thrombophilia in the development of thrombosis after coronary artery bypass graft surgery

C677t Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Patients With St-Segment Elevation Myocardial Infarction

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