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早发性心肌梗死:SIRT1基因变异影响疾病易感性。

Premature Myocardial Infarction: Genetic Variations in SIRT1 Affect Disease Susceptibility.

作者信息

Yamac Aylin Hatice, Uysal Omer, Ismailoglu Ziya, Ertürk Mehmet, Celikten Mert, Bacaksiz Ahmet, Kilic Ulkan

机构信息

Bezmialem Vakif University, Faculty of Medicine, Department of Cardiology, Istanbul, Turkey.

Bezmialem Vakif University, Faculty of Medicine, Department of Biostatistics, Istanbul, Turkey.

出版信息

Cardiol Res Pract. 2019 Apr 15;2019:8921806. doi: 10.1155/2019/8921806. eCollection 2019.

Abstract

OBJECTIVES

Premature myocardial infarction (PMI) is an uncommon disease, and its incidence varies between 2% and 10%, rising, depending on genetic susceptibility under the influence of lifestyle. The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs), SIRT1, and eNOS (endothelial nitric oxide synthase) protein expressions, total antioxidant status (TAS), total oxidant status (TOS), and oxidative stress index (OSI) in young patients with premature ST-elevation myocardial infarction (STEMI).

METHODS

Genotyping of the three single-nucleotide polymorphisms (rs7895833 A > G in the promoter region, rs7069102 C > G in intron 4, and rs2273773 C > T in exon 5) in gene was performed in 108 consecutive patients (87.0% were men with a mean age of 40.74 ± 3.82 years) suffering from ST-elevation myocardial infarction at the age of ≤45 and 91 control subjects.

RESULTS

The risk for myocardial infarction was increased by 2.31 times in carriers of CC or CG genotypes. SIRT1 protein levels were enhanced and endothelial nitric oxide synthase levels were diminished in ST-elevation myocardial infarction patients regardless of the underlying gene variant. There was no correlation between SIRT1 expression and the amount of endothelial nitric oxide synthase, total antioxidant status, total oxidant status, and oxidative stress index levels in patients and in the control group either.

CONCLUSIONS

single-nucleotide polymorphisms were associated with premature myocardial infarction, which affected the SIRT1 and endothelial nitric oxide synthase protein expression, irrespective of the underlying genotype.

摘要

目的

早发心肌梗死(PMI)是一种罕见疾病,其发病率在2%至10%之间,因生活方式影响下的遗传易感性不同而有所上升。本研究的目的是调查早发ST段抬高型心肌梗死(STEMI)年轻患者中,单核苷酸多态性(SNP)、沉默调节蛋白1(SIRT1)和内皮型一氧化氮合酶(eNOS)蛋白表达、总抗氧化状态(TAS)、总氧化状态(TOS)以及氧化应激指数(OSI)之间的关联。

方法

对108例连续的年龄≤45岁的ST段抬高型心肌梗死患者(87.0%为男性,平均年龄40.74±3.82岁)和91例对照者进行该基因三个单核苷酸多态性(启动子区域的rs7895833 A>G、内含子4的rs7069102 C>G以及外显子5的rs2273773 C>T)的基因分型。

结果

CC或CG基因型携带者发生心肌梗死的风险增加2.31倍。无论潜在基因变异如何,ST段抬高型心肌梗死患者的SIRT1蛋白水平升高,而内皮型一氧化氮合酶水平降低。患者组和对照组中,SIRT1表达与内皮型一氧化氮合酶量、总抗氧化状态、总氧化状态以及氧化应激指数水平之间均无相关性。

结论

单核苷酸多态性与早发心肌梗死相关,其影响SIRT1和内皮型一氧化氮合酶蛋白表达,与潜在基因型无关。

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