代谢综合征临床前期并发症的基因分型特征

K. L., F. B, Chotuleva A, S. P, Lole O, Yukhno M, Prozorova I, P. N, R. S, A. A, D. A.
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引用次数: 0

摘要

根据一些大型流行病学研究,使用个性化医疗原则来预防代谢综合征(MS)等广泛存在的疾病,代谢综合征是一种与病理相关的代谢紊乱的复合物,如腹部肥胖、高血压、胰岛素抵抗、二脂血症,实际上,它与产品相比约有20%至45%的致命并发症。由于,一方面,这种情况是可逆的,即通过适当的治疗,可以降低其主要表现的严重程度,另一方面,MS的存在是高心脏代谢风险的主要原因,结合了心血管疾病的风险和发展为糖尿病(DM) 2型的风险。这是工业化国家死亡率上升的主要原因。随着MS的发展,在未来5-10年内,2型糖尿病的风险增加了5倍,患心血管疾病的风险增加了2倍。此外,与无MS患者相比,MS患者发生卒中的风险增加2-4倍,心肌梗死的风险增加3-4倍,死于这些疾病的风险增加2倍,无论是否有心血管事件史。基于基因检测后对个体的监测和对前瞻性基因分析结果的批判性分析,有关症状前(预后)基因检测可能性的信息变得越来越实用。获得的基因分型数据允许评估临床前诊断的有效性,并确定治疗患者的策略。材料和方法:使用“Sintol”公司的“S-Sorb”试剂和二氧化硅吸附剂对国家资助的卫生机构“中心城市临床医院”Veliky Novgo-rod的135名患者的全血进行DNA释放,用于随后的基因分型,其中101名患者中风,34名患者高血压,肥胖,糖尿病2型。为研究代谢综合征并发症发生的遗传易感性,分配了遗传多态性复合体。对以下基因进行基因分型:血压调节系统血管紧张素原基因(AGT) Thr174Met (rs4762)多态性;止血系统纤维蛋白原基因(FGB) G-455A (rs1800790)多态性;白细胞介素-6 (IL6)基因C174G (rs1800795)炎症过程多态性调控系统使用带有特定寡核苷酸引物和TaqMan探针的«Sintol»试剂盒,使用“实时”聚合酶链反应揭示了所研究基因的单核苷酸遗传多态性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Features of Genotyping of Complications of The Metabolic Syndrome at The Preclinical Stage
Use of the principles personalized medicine for preventing such widespread conditions as metabol-ic syndrome (MS) representing a complex of pathogenetically interrelated metabolic disorders ab-dominal obesity, hypertension, insulin resistance, dislipidemia, actual, as according a number of large epidemiological studies it with products versus about 20 to 45% of fatal complications. MS, allocation of a separate pathology is of great clinical value, claim about Since, on the one hand, this condition is reversible, that is, with appropriate therapy, it is possible to reduce the se-verity of its main manifestations, on the other hand, the presence of MS acts as the main cause of high cardiometabolic risk, combining the risk cardiovascular diseases and the risk of developing diabetes mellitus (DM) type 2, which are the main causes of increased mortality in industrialized countries. With the development of MS, there is a 5-fold increase in the risk of type 2 diabetes and a 2-fold increase in the risk of developing cardiovascular diseases over the next 5-10 years. In ad-dition, in patients with MS, the risk of stroke increases by 2-4 times, by 3-4 times myocardial in-farction, the risk of death from these diseases increases by 2 times compared with patients without MS, regardless of the history of cardiovascular events. Based on the monitoring of individuals after genetic testing and a critical analysis of the results of a prospective genetic analysis, information about the possibilities of pre-symptomatic (prognostic) genetic testing becomes more and more practical. The obtained genotyping data allowed to evaluate the effectiveness of preclinical diagnosis and determine the tactics of treating patients. Materials and Methods: Release of DNA for the subsequent genotyping is made of whole blood by sets of «S-Sorb» reagents of the «Sintol» company with use of a sorbent of dioxide of silicon for 135 patients of State-funded health institution "Central City Clinical Hospital" Veliky Novgo-rod, from them 101 patients – with stroke, 34 patients – with a hypertension, obesity, diabetes 2 types. For studying of genetic predisposition to development of complications of a metabolic syndrome the complex of genetic polymorphisms is allocated. Genotyping on the following genes was carried out: Blood pressure regulation system Thr174Met (rs4762) polymorphism of the angiotensinogen gene (AGT); Hemostasis system polymorphism G-455A (rs1800790) of the fibrinogen gene (FGB); The system of regulation of the inflammatory process polymorphism C174G (rs1800795) of the gene for interleukin-6 (IL6). Single nucleotide genetic polymorphisms of the studied genes were revealed using the “real-time” polymerase chain reaction using «Sintol» reagent kits with specific oligonucleotide primers and TaqMan probes.
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