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The journal "Ateroskleroz"

2021 year, number 1

ANALYSIS OF F5 GENE POLYMORPHISM IN MEN WITH CORONARY ATHEROSCLEROSIS USING WHOLE EXOME SEQUENCING

E. S. Striukova1, E. V. Shakhtshneider1,2, D. E. Ivanoshchuk1,2, Yu.I. Ragino1, Ya.V. Polonskaya1, I. S. Murashov3, A. M. Volkov3, A. V. Kurguzov3, A. M. Chernyavsky3, E. S. Valeev2, V. N. Maksimov1, E. V. Kashtanova1
1Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia
2Federal State Autonomous Educational Institution for Higher Education «Novosibirsk State University, Novosibirsk, Russia
3The Federal State Budgetary Institution «National Medical Research Center named academician E. N. Meshalkin of the Ministry of Health of the Russian Federation, Novosibirsk, Russia
Keywords: F5 gene, factor V, coronary atherosclerosis

Abstract

Factor V, encoded by the F5 gene, is a procoagulant blood clotting factor that increases the production of thrombin, the central enzyme that converts fibrinogen to fibrin, which leads to the formation of a blood clot. The F5 gene is localized to 1q24.2 chromosome and consists of 25 exons. There are various mutations in the F5 gene that lead to resistance of activated protein C (APC) (elimination of the AP cleavage site in factor V and factor Va), which can lead to arterial and venous thrombosis. The aim of the present study was to analyze variants of the F5 gene in patients diagnosed with coronary atherosclerosis without acute coronary syndrome with stable functional class II-IV angina pectoris, confirmed by coronary angiography data, using the method of whole exome sequencing. Material and methods. The study was conducted in the framework of the Program of joint research work IIPM - branch of the ICG SB RAS and the FSBI «Research Institute of Circulation Pathology named after E. N. Meshalkin Ministry of Health of Russian Federation. The study included 30 men aged 40-70 years with coronary angiography-verified coronary atherosclerosis, without ACS, with stable angina pectoris of the II-IV FC. Patients were admitted for coronary bypass surgery, and endarteriaectomy from the coronary artery (s) was performed during the operation according to intraoperative indications. Whole exome sequencing (SureSelectXT Human All Exon v.6+UTR) was carried out on an Illumina NextSeq 500 instrument (USA). Results. In 30 patients, 29 single-nucleotide variants were found in the F5 gene. In patients with coronary atherosclerosis, rs9332701 of the F5 gene is 3.33 times more common, and rs6027 is 1.67 times more common than in the population. And rs184663825 was found in 3.33% of cases, while its occurrence in the population is 0.05%. For variants rs6034 and rs144979314, a possible damaging effect on the protein product is shown. Conclusion. The single-nucleotide variants rs9332701, rs6027, rs184663825, rs6034, rs144979314 of the F5 gene are of interest for inclusion in the genetic panels for the analysis of risk factors for the development of acute coronary syndrome.