medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.03.54-58medgen-2279Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTАссоциация однонуклеотидного полиморфизма Lys198Asn гена эндотелина-1 с его концентрацией в сыворотке больных множественной миеломойAssociation of single nucleotide polymorphism Lys198Asn of the endothelin-1 gene with it’s concentration in the serum of multiple myeloma patientsМордвиноваЕ. В.MordvinovaE. V.

443099 г. Самара, ул. Чапаевская, д.89

89, Chapaevskaya st., Samara, 443099

e.v.mordvinova@samsmu.ruСустретовА. С.SustretovA. S.

443079, г. Самара, ул. Гагарина, д. 20

20, Gagarina st., Samara, 443079

МироноваТ. П.MironovaT. P.

443099 г. Самара, ул. Чапаевская, д.89

89, Chapaevskaya st., Samara, 443099

ДавыдкинИ. Л.DavydkinI. L.

443099 г. Самара, ул. Чапаевская, д.89

89, Chapaevskaya st., Samara, 443099

НаумоваК. В.NaumovaK. V.

443099 г. Самара, ул. Чапаевская, д.89

89, Chapaevskaya st., Samara, 443099

СтепановаТ. Ю.StepanovaT. Yu.

443099 г. Самара, ул. Чапаевская, д.89

89, Chapaevskaya st., Samara, 443099

ФГБОУ ВО «Самарский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияSamara State Medical UniversityRussian FederationИнститут экспериментальной медицины и биотехнологийРоссияInstitute of Experimental Medicine and BiotechnologyRussian Federation2023250720232235458Copyright © Мордвинова Е.В., Сустретов А.С., Миронова Т.П., Давыдкин И.Л., Наумова К.В., Степанова Т.Ю., 20232023Мордвинова Е.В., Сустретов А.С., Миронова Т.П., Давыдкин И.Л., Наумова К.В., Степанова Т.Ю.Mordvinova E.V., Sustretov A.S., Mironova T.P., Davydkin I.L., Naumova K.V., Stepanova T.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2279

Множественная миелома (ММ) –  гематологическое злокачественное новообразование, характеризующееся клональной пролиферацией патологических плазмацитов. Пациенты с ММ имеют риск сердечно-сосудистых заболеваний (ССЗ) на исходном уровне 54–74%. Важную роль в развитии и/или прогрессировании ССЗ играет эндотелиальная дисфункция (ЭД), в основе которой лежит дисбаланс, в частности, между синтезом и секрецией вазоконстрикторов и вазодилататоров. В связи с предиктивнопревентивной направленностью медицины актуальным стало изучение генетической предрасположенности к развитию ЭД. Нами была изучена связь генетических вариантов EDN1 (rs5370) с концентрацией эндотелина-1 (ЭТ-1) в сыворотке крови у пациентов с впервые выявленной ММ до начала противоопухолевой терапии. В результате исследования было выявлено следующее распределение генетических вариантов в исследуемой группе: доля гомозигот по варианту дикого типа составила 13,64%, поминорному варианту – 29,55%, доля гетерозигот – 56,82%. В контрольной группе распределение было следующим: 40,00%, 24,44% и 35,56%, соответственно. У больных ММ наблюдалась более высокая концентрация ЭТ-1 в сыворотке при сравнении с пациентами без ММ.

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.

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The authors declare that there are no conflicts of interest present.