ISSN : 1301-5680
e-ISSN : 2149-8156
TURKISH JOURNAL OF
THORACIC AND
CARDIOVASCULAR SURGERY
Turkish Journal of Thoracic and Cardiovascular Surgery     
Relationship of genetic factors with development of aortic dissection and aneurysm
Rıfat Özmen1, Aydın Tunçay2, Elif Funda Şener1, Ömer Naci Emiroğulları2
1Department of Cardiovascular Surgery, Kayseri Training and Research Hospital, Kayseri, Turkey
2Department of Cardiovascular Surgery, Medicine Faculty of Erciyes University, Kayseri, Turkey
3Department of Medical Biology, Medicine Faculty of Erciyes University, Kayseri, Turkey
DOI : 10.5606/tgkdc.dergisi.2018.16424
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.

Keywords : Aortic aneurysm; aortic dissection; genetic; nitric oxide synthase-3; NOS3; polymorphism
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