Polymorphism of MTHFR, GP1BA, FGA genes in pulmonary embolism

N.M. Kryuchkova¹, T.E. Fedorova², A.A. Chernova², S.Yu. Nikulina²

¹Krasnoyarsk Trans-Regional Clinical Hospital No. 20 named after I.S. Berzon, Krasnoyarsk

²Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Krasnoyarsk

Venous thromboembolism, which includes pulmonary embolism (PE), is the third most common cardiovascular disease after coronary heart disease and stroke of cardiovascular morbidity, which causes a large number of fatal outcomes in both inpatient and outpatient patients. Acquired and genetic factors play the important role in the PE pathogenesis. This article reflects a scientific literature review using OMIM and PubMed databases for the last 20 years concerning the glycoprotein Ib alpha (GP1BA) gene, which is located on the surface of the platelet membrane and acts as a receptor for von Willebrand factor; the gene responsible for encoding the fibrinogen alpha (FGA) polypeptide, as well as the gene encoding methylenetetrahydrofolate reductase (MTHFR). MTHFR catalyzes the conversion of 5.10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, necessary for the re-methylation of homocysteine to methionine. These genes mechanisms of action, their structure and proteins functioning encoded by them were analyzed. The article also presents data from published studies that indicate the role of these genes in the pathogenesis of not only venous thromboembolism, but also other cardiovascular diseases. Several studies have demonstrated the association of these genes with the PE occurrence.

Keywords: gene, glycoprotein Ib alpha, methylenetetrahydrofolate reductase, fibrinogen alpha, GP1BA, FGA, MTHFR, multifactorial disease, venous thromboembolism, pulmonary embolism.

For citation: Kryuchkova N.M., Fedorova T.E., Chernova A.A., Nikulina S.Yu. Polymorphism of MTHFR, GP1BA, FGA genes in pulmonary embolism. RMJ. 2020;3:18–20.