[Association of the structure of the glucocorticoid receptor and single nucleotide NR3C1 gene polymorphisms with metabolic disorders].

Q4 Medicine
S S Brovkina, I S Dzherieva, N I Volkova, T P Shkurat, Z A Goncharova, E V Mashkina, I B Reshetnikov
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引用次数: 0

Abstract

Glucocorticoid therapy is widely used in the treatment of various pathologies. Sensitivity to glucocorticoids  (GC) has a serious impact not only on the effectiveness of their action, but also on the severity of side effects, the formation of risk factors and the development  of cardiovascular diseases (CVD). Variability of sensitivity to GC causes different phenotypes and severity of metabolic disorders underlying  CVD. Among  them, one can distinguish  a decrease in muscle mass and strength, obesity, glucose and lipid metabolism impairment, and others. Glucocorticoids carry out their effects by binding to the glucocorticoid receptor (GR), and therefore this is considered a critical point in their action. This review presents data on the significance of the glucocorticoid  receptor structure, examines the main single nucleotide polymorphisms (SNP) of the NR3C1 gene associated with hypersensitivity  or relative resistance to glucocorticoids  in the context of metabolic disorders and the development of CVD. The association of the four most studied SNP of the GR gene with metabolic risks is described in detail: BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), GR-9ß (rs6198). Their determination can contribute to clarifying the prognosis of both the effectiveness of GC and the development of metabolic disorders, and subsequent early correction of CVD risk factors.

[糖皮质激素受体结构和单核苷酸NR3C1基因多态性与代谢紊乱的关系]。
糖皮质激素疗法广泛应用于各种病理的治疗。对糖皮质激素(GC)的敏感性不仅严重影响其作用的有效性,而且影响其副作用的严重程度、危险因素的形成和心血管疾病(CVD)的发展。对GC敏感性的变异性导致CVD潜在代谢紊乱的不同表型和严重程度。其中,人们可以区分肌肉质量和力量的减少、肥胖、糖脂代谢障碍等。糖皮质激素通过与糖皮质激素受体(GR)结合来发挥作用,因此这被认为是其作用的关键点。本文综述了糖皮质激素受体结构的重要意义,研究了代谢紊乱和心血管疾病发展中与糖皮质激素过敏或相对耐药相关的NR3C1基因的主要单核苷酸多态性(SNP)。详细描述了研究最多的4个GR基因SNP与代谢风险的关系:BclI (rs41423247)、N363S (rs56149945)、ER22/23EK (rs6189/rs6190)、GR-9ß (rs6198)。它们的测定有助于明确GC有效性和代谢性疾病发展的预后,以及随后对CVD危险因素的早期纠正。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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