Genetic Polymorphisms of coagulation factors and platelet glycoproteins in patients with chronic myeloproliferative neoplasms

Shaykhutdinova R.V.

Siberian Federal University, Krasnoyarsk, Russia

Kochmareva G.Yu.

Siberian Federal University, Krasnoyarsk, Russia

Serova E.A.

Siberian Federal University, Krasnoyarsk, Russia

Subbotina T.N.

Siberian Federal University, Krasnoyarsk, Russia;
Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia, Krasnoyarsk, Russia

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Mihalev M.A.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia;
Krasnoyarsk State Medical University named after Professor V.F. Voino-Yasenetsky, Krasnoyarsk, Russia;
Municipal Budget Health Service Institution «City Clinical Hospital №7» Krasnoyarsk, Russia

Smelyanskaya M.G.

Krasnoyarsk regional hospital, Krasnoyarsk, Russia

Osadchaia M.G.

Municipal Budget Health Service Institution "City Clinical Hospital № 7", Krasnoyarsk, Russia

Olkhovsky I.A.

Buryat State University, medical institute, Ulan-Ude, Russia

Genetic Polymorphisms of coagulation factors and platelet glycoproteins in patients with chronic myeloproliferative neoplasms

Authors:

Shaykhutdinova R.V., Kochmareva G.Yu., Serova E.A., Subbotina T.N., Vasil’eva E.V., Mihalev M.A., Smelyanskaya M.G., Osadchaia M.G., Olkhovsky I.A.

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Journal: Laboratory Service. 2018;7(1): 20‑24

DOI: 10.17116/labs20187120-24

Downloaded: 10

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To cite this article:

Shaykhutdinova RV, Kochmareva GYu, Serova EA, et al. . Genetic Polymorphisms of coagulation factors and platelet glycoproteins in patients with chronic myeloproliferative neoplasms. Laboratory Service. 2018;7(1):20‑24. (In Russ.)
https://doi.org/10.17116/labs20187120-24

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Thrombotic and hemorrhagic complications are a frequent event and the main cause of death of patients with chronic myeloproliferative neoplasms (MPN). The somatic mutations in the genes JAK2, MPL, CALR are determining the pathogenesis of MPN and associated with individual phenotypic manifestations of the disease: polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Recent studies have also demonstrated the role of integrin and collagen receptors in regulating the proliferative activity of proplatelet and the formation of bone marrow fibrosis. The role of polymorphisms of hereditary thrombophilia in the pathogenesis of MPN has not been extensively studied. The aim of the study was to determine the prognostic significance of carriage of genetic polymorphisms of platelet receptors on the development of some variants of MPN. Material and methods. 160 patients with MPN, were analyzed for thrombotic polymorphisms in genes encoding the components of plasma and platelet hemostasis: FII, FV, MTHFR, ITGB3, GPIBA, ITGA2, P2RY12 and the SELPIG gene. Results. The frequency of the studied polymorphisms in the general group of patients with MPN suggest to the data in the control group and in the European population. It was shown that the polymorphism of the vWF receptor is more frequent in the ET group than in the PV group. Polymorphism of the SELPLG was more common in the MF group than in patients with PV. Conclusions. Genetic features of individual receptor structures of cells of the megakaryocytic line can determine the features of phenotypic manifestations of MPN.

Keywords:

myeloproliferative neoplasms

polycythemia vera

essential thrombocythemia

myelofibrosis

thrombotic events

genetic polymorphism

Authors:

Shaykhutdinova R.V.

Siberian Federal University, Krasnoyarsk, Russia

Kochmareva G.Yu.

Siberian Federal University, Krasnoyarsk, Russia

Serova E.A.

Siberian Federal University, Krasnoyarsk, Russia

Subbotina T.N.

Siberian Federal University, Krasnoyarsk, Russia;
Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia, Krasnoyarsk, Russia

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Mihalev M.A.

Smelyanskaya M.G.

Krasnoyarsk regional hospital, Krasnoyarsk, Russia

Osadchaia M.G.

Municipal Budget Health Service Institution "City Clinical Hospital № 7", Krasnoyarsk, Russia

Olkhovsky I.A.

Buryat State University, medical institute, Ulan-Ude, Russia

List of references:

Melikyan AL, Turkina AG, Abdulkadyrov KM, Zaritskii AYu, Afanas’ev BV, Shuvaev VA, Lomaia EG, Morozova EV, Baikov VV, Golenkov AK, Subortseva IN, Sokolova MA, Kovrigina AM, Martynkevich IS, Gritsaev SV, Sudarikov AB, Sukhanova GA, Ivanova VL, Kaplanov KD, Konstantinova TS, Pospelova TI, Ageeva TA, Shatokhin YuV. Clinical recommendations for diagnosis and therapy of Ph-negative myeloproliferative diseases (polycythemia vera, essential thrombocythemia, primary myelofibrosis). Gematologiya i transfuziologiya. 2014;59(4):31-56. (In Russ.)
Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ,Porwit A, Harris NL, Le Beau MM, Hellström-Lindberg E, Tefferi A, Bloomfield CD. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951. https://doi.org/10.1182/blood-2009-03-209262
Bergmeier W, Burger PC, Piffath CL, Hoffmeister KM, Hartwig JH, Nieswandt B, Wagner DD. Metalloproteinase inhibitors improve the recovery and hemostatic function of in vitro-aged or injured mouse platelets. Blood. 2003;102(12):4229-4235. https://doi.org/10.1182/blood-2003-04-1305
Sim X, Poncz M, Gadue P, French DL. Understanding platelet generation from megakaryocytes: implications for in vitro—derived platelets. Blood. 2016; 127:1227-1233. https://doi.org/10.1182/blood-2015-08-607929
Shikhbabaeva DI, Polushkina LB, Shuvaev VA, Martynkevich IS, Kapustin SI, Zamotina TB, Fominykh MS, Udal’eva VYu, Zotova II, Shmeleva VM, Smirnova OA, Voloshin SV, Bessmel’tsev SS.,Chechetkin AV, Abdulkadyrov KM. Genetic markers of hereditary thrombophilia and risk of thrombotic complications in patients with polycythemia vera. Clinical oncohematology. 2017;10(1):85-92 (In Russ.) https://doi.org/10.21320/2500-2139-2017-10-1-85-92
Subbotina TN, Olkhovskiy IA, Petukhova AV, Shaykhutdinova RV. Study of thrombogenic genetic polymorphisms influence on probability development of certain pathogenetic stroke types. Thrombosis, hemostasis and reology. 2014;4(60):42-46. (In Russ.)
National Center for Biotechnology Information Support Center (NCBI) National Library of Medicine/National Institute of Health [baza dannykh]. https://www.ncbi.nlm.nih.gov
Voronina EN, Filipenko ML, Sergeevichev DS, Pikalov IV. Membrannye receptory trombocitov: funcii i polimorphism. Vavilovskii journal gerenitiki i selecii. 2006;10(3):553-564. (In Russ.)

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