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Association of single nucleotide polymorphism Lys198Asn of the endothelin-1 gene with it’s concentration in the serum of multiple myeloma patients

https://doi.org/10.25557/2073-7998.2023.03.54-58

Abstract

Multiple myeloma (MM) is a hematological malignancy characterized by clonal proliferation of abnormal plasma cells.  Patients with MM have a baseline cardiovascular disease (CVD) risk of 54–74%. An important role in the development and/or progression of CVD is played by endothelial dysfunction (ED), which is based on an imbalance, in particular, between the synthesis and secretion of vasoconstrictors and vasodilators. In connection with the predictive and preventive focus of medicine, it has become relevant to study the genetic predisposition to the development of ED. We have studied the association of genetic variants of endothelin-1 gene (rs5370) with the concentration of endothelin-1 (ET-1) in the blood serum of patients with newly diagnosed MM before the start of anticancer therapy. As a result of the study, the following distribution of genetic variants in the study group was revealed: the wild variant was 13.64%, the minor variant was 29.55%, and the heterozygous variant was 56.82%. While in the control group it was as follows: 40.00%, 24.44% and 35.56%, respectively. Patients with MM had higher serum ET-1 concentrations when compared with patients without MM.

About the Authors

E. V. Mordvinova
Samara State Medical University
Russian Federation

89, Chapaevskaya st., Samara, 443099



A. S. Sustretov
Institute of Experimental Medicine and Biotechnology
Russian Federation

20, Gagarina st., Samara, 443079



T. P. Mironova
Samara State Medical University
Russian Federation

89, Chapaevskaya st., Samara, 443099



I. L. Davydkin
Samara State Medical University
Russian Federation

89, Chapaevskaya st., Samara, 443099



K. V. Naumova
Samara State Medical University
Russian Federation

89, Chapaevskaya st., Samara, 443099



T. Yu. Stepanova
Samara State Medical University
Russian Federation

89, Chapaevskaya st., Samara, 443099



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Review

For citations:


Mordvinova E.V., Sustretov A.S., Mironova T.P., Davydkin I.L., Naumova K.V., Stepanova T.Yu. Association of single nucleotide polymorphism Lys198Asn of the endothelin-1 gene with it’s concentration in the serum of multiple myeloma patients. Medical Genetics. 2023;22(3):54-58. (In Russ.) https://doi.org/10.25557/2073-7998.2023.03.54-58

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