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遗传因素与主动脉夹层和动脉瘤发生发展的关系。

Relationship of genetic factors with development of aortic dissection and aneurysm.

作者信息

Özmen Rıfat, Tunçay Aydın, Şener Elif Funda, Emiroğulları Ömer Naci

机构信息

Department of Cardiovascular Surgery, Kayseri Training and Research Hospital, Kayseri, Turkey.

Department of Cardiovascular Surgery, Medicine Faculty of Erciyes University, Kayseri, Turkey.

出版信息

Turk Gogus Kalp Damar Cerrahisi Derg. 2018 Sep 16;26(4):557-564. doi: 10.5606/tgkdc.dergisi.2018.16424. eCollection 2018 Oct.

DOI:10.5606/tgkdc.dergisi.2018.16424
PMID:32082797
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7018176/
Abstract

BACKGROUND

This study aims to investigate the relationship between the development of aortic dissections and aneurysms with the polymorphisms of angiotensin converting enzyme gene, methylenetetrahydrofolate reductase gene, plasminogen activator inhibitor-1 gene, and nitric oxide synthase gene.

METHODS

Between April 2009 and July 2014, 38 patients with aortic dissections (28 males, 10 females; mean age 55.1±10.7 years; range, 30 to 78 years) and 67 patients with aortic aneurysms (57 males, 10 females; mean age 63.0±11.4 years; range, 31 to 82 years) were included in this cross-sectional study. The control group consisted of 60 healthy volunteers (41 males, 19 females; mean age 56.3±11.2 years; range, 30 to 82 years) without an aortic aneurysm or dissection, as assessed by thoracoabdominal computed tomography. The prespecified four genes were genotyped with competitive allelespecific polymerase chain reaction.

RESULTS

The aortic dissection group had higher nitric oxide synthase-3 (4b/4b) expression levels, compared to the control group. The aortic aneurysm group had also higher nitric oxide synthase-3 (4b/4a) expression levels, compared to the control group. Compared to the control group, a higher rate of angiotensin converting enzyme I/D gene polymorphism was detected in the aneurysm group, while higher D/D polymorphism rates were found in the dissection group; although not statistically significant.

CONCLUSION

Our study results suggest that the nitric oxide synthase-3 intron 4b/4b and nitric oxide synthase-3 intron 4b/4a gene polymorphisms can be used as a predictor of aortic dissection and aneurysm development.

摘要

背景

本研究旨在探讨主动脉夹层和动脉瘤的发生与血管紧张素转换酶基因、亚甲基四氢叶酸还原酶基因、纤溶酶原激活物抑制剂-1基因及一氧化氮合酶基因多态性之间的关系。

方法

在2009年4月至2014年7月期间,本横断面研究纳入了38例主动脉夹层患者(28例男性,10例女性;平均年龄55.1±10.7岁;范围30至78岁)和67例主动脉瘤患者(57例男性,10例女性;平均年龄63.0±11.4岁;范围31至82岁)。对照组由60名健康志愿者组成(41例男性,19例女性;平均年龄56.3±11.2岁;范围30至82岁),经胸腹计算机断层扫描评估,这些志愿者无主动脉瘤或夹层。采用竞争性等位基因特异性聚合酶链反应对预先设定的四个基因进行基因分型。

结果

与对照组相比,主动脉夹层组一氧化氮合酶-3(4b/4b)表达水平更高。与对照组相比,主动脉瘤组一氧化氮合酶-3(4b/4a)表达水平也更高。与对照组相比,动脉瘤组血管紧张素转换酶I/D基因多态性检出率更高,而夹层组D/D多态性率更高;尽管差异无统计学意义。

结论

我们的研究结果表明,一氧化氮合酶-3内含子4b/4b和一氧化氮合酶-3内含子4b/4a基因多态性可作为主动脉夹层和动脉瘤发生的预测指标。