ketendoКлиническая и экспериментальная тиреоидологияClinical and experimental thyroidology1995-54722310-3787Endocrinology Research Centre10.14341/CET201410222-31ketendo-6747Research ArticleСтатьиArticlesВклад распространенных однонуклеотидных полиморфизмов гена β1-адренорецептора в изменения, происходящие в сердечно-сосудистой системе при тиреотоксикозеThe Contribution of the Common Single-nucleotide Polymorphisms of β1-Adrenoreceptor Gene to Cardiovascular Alteration in Patients with ThyrotoxicosisBabenkoA Y

доктор мед. наук, заведующая НИЛ диабетологии института эндокринологии ФМИЦ им. В.А. Алмазова; ФГБУ “Федеральный медицинский исследовательский центр им. В.А. Алмазова”

alina_babenko@mail.ruKostarevaA A

канд. мед. наук, директор института молекулярной биологии и генетики ФМИЦ им. В.А. Алмазова; ФГБУ “Федеральный медицинский исследовательский центр им. В.А. Алмазова”

-GrinevaE N

доктор мед. наук, профессор, директор института эндокринологии ФМИЦ им. В.А. Алмазова; ФГБУ “Федеральный медицинский исследовательский центр им. В.А. Алмазова”

-SavitskajaD A

клинический ординатор, институт эндокринологии ФМИЦ им. В.А. Алмазова; ФГБУ “Федеральный медицинский исследовательский центр им. В.А. Алмазова”

-SolncevV N

доктор мед. наук, группа статистики ФМИЦ им. В.А. Алмазова.; ФГБУ “Федеральный медицинский исследовательский центр им. В.А. Алмазова”

-201415062014102ТОМ 10, №2 (2014)2231Copyright © Babenko A.Y., Kostareva A.A., Grineva E.N., Savitskaja D.A., Solncev V.N., 20142014Babenko A.Y., Kostareva A.A., Grineva E.N., Savitskaja D.A., Solncev V.N.Babenko A.Y., Kostareva A.A., Grineva E.N., Savitskaja D.A., Solncev V.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.cet-endojournals.ru/jour/article/view/6747

Выявление структуры генетической компоненты распространенных болезней является одним из ключевых направлений в современной медицине. При тиреотоксикозе (ТТ) наиболее актуальны предикторы, определяющие вероятность развития ремиссии заболевания и риск сердечно-сосудистых осложнений. Мы сосредоточились именно на втором из обозначенных аспектов. Кандидатами для изучения являются прежде всего те гены, экспрессия которых, с одной стороны, регулируется трийодтиронином и которые, с другой стороны, играют ключевую роль в изменении сократимости миокарда и аритмогенезе. Сюда относятся, в частности, полиморфизмы гена β1-адренорецептора (β1-АР): полиморфизм в кодоне 389 (Gly389Arg) и полиморфизм в кодоне 49 (Ser49Gly). Целью настоящей работы явилось изучение влияния полиморфизмов гена β1-АР на клинические и эхокардиографические показатели при тиреотоксикозе и их динамику в процессе лечения. Было обследовано 165 пациентов с болезнью Грейвса и явным ТТ без сопутствующей патологии сердца. Анализ полученных данных показал, что полиморфизмы гена β1-АР оказывают умеренное влияние на характер ремоделирования левого желудочка, определяя в некоторой степени риск гипертрофии левого желудочка и ее характер (эксцентрическая, концентрическая), а также риск развития предсердных нарушений ритма. Обнаружена тенденция к наименьшему риску развития сердечно-сосудистых осложнений ТТ у носителей комбинации генотипа GG по полиморфизму Ser49Gly и генотипа СС по полиморфизму Gly389Arg. Однако статистически достоверных эффектов данных полиморфизмов выявлено не было.

The detection of a genetic organization of common diseases is one of the first key direction in modern medicine. In thyrotoxicosis, identification of genetic predictors, defining remission and the risk of cardiovascular complications is of a great importance. We gave attention to the second of above mentioned aspects. Candidates for genetic prediction are the genes regulated by triiodothyronine and playing a key role in changing of the myocardial contractility and arrhythmogenesis. There are SNPs of the β1-adrenergic receptor (ADRB1) gene among them: polymorphism in the 389 codon (Gly389Arg) and polymorphism in codon 49 (Ser49Gly). The investigation goal was to determine whether the deleterious effects on cardiovascular system of the thyroid hormones excess in people with thyrothoxicosis were modified by polymorphic variants of ADRB1 gene. So we investigated the possible link of these two SNPs with clinicopathologic findings, echocardiographic parameters and the changes during therapy in 165 patients with a thyrotoxicosis caused by Gravesdisease without any nonthyrotoxic cardiovascular disorders. The data analysis demonstrates that both Gly389Arg and Ser49Gly polymorphisms have very moderate influence on the risk of atrial arrhythmias, left ventricular hypertrophy and its type (concentric or eccentric). Genotype Gly389Gly (Gly389Arg polymorphism) or genotype Gly49Gly (Ser49Gly polymorphism) carriers have tendency to the lowest risk of cardiovascular complications during thyrohoxicosis, but no statistically significant effects were revealed.

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