Türk Kardiyol Dern Arş - Arch Turk Soc Cardiol 2014;42(1):55-60 doi: 10.5543/tkda.2014.88269 Association between endothelial nitric oxide synthase intron 4a/b polymorphism and aortic dissection Endotelin nitrik oksit sentaz intron 4a/b polimorizmi ve aort diseksiyonu arasındaki ilişki Department of Cardiology, Siyami Ersek Cardiovascular and Thoracic Surgery Center, Istanbul; # Department of Cardiology, Kadirli State Hospital, Osmaniye; *Department of Cardiovascular Surgery, Siyami Ersek Cardiovascular and Thoracic Surgery Center, Istanbul; † Department of Genetics, Istanbul University, Institute for Experimental Medical Research, Istanbul Ahmet Ekmekçi, M.D., Mahmut Uluganyan, M.D., # Barış Güngör, M.D., Neslihan Abacı, M.D., † Kazım Serhan Özcan, M.D., Gökhan Ertaş, M.D., Aycan Zencirci, M.D., Ahmet Yavuz Balcı, M.D.,* Sema Sırma Ekmekci, M.D., † Nurten Sayar, M.D., Duran Ustek, M.D., † Mehmet Eren, M.D. Objectives: The genetic risk factors that contribute to the risk of developing aortic dissection (AD) have been studied. We assessed the association of endothelial nitric oxide synthase (eNOS) gene polymorphism with AD. Study design: Patients who underwent surgery with the di- agnosis of AD and survived after the operation in our center between May 2007 and June 2011 were recruited retrospec- tively. The eNOS intron 4a/b polymorphism was determined by polymerase chain reaction (PCR) using oligonucleotide primers (sense: 5’-AGGCCCTATGGTAGTGCCTTT-3’; an- tisense: 5’-TCTCTTAGTGCTGTGGTCAC-3’) that lank the region of the 27 bp VNTR in intron 4. Results: Thirty-nine patients (88%) had type A AD, while the remainder (12%) had type B AD. The distribution of eNOS4 a/b gene polymorphism differed signiicantly from the control group, with higher frequencies of eNOS 4a/a and 4a/b geno- types in the AD group (χ 2 =7.16, p=0.03). Conclusion: In this study, the distribution of eNOS genotypes differed between the AD and control groups; however, this polymorphism was not found to be an independent factor for the development of AD. Amaç: Aort diseksiyonu (AD) gelişimine neden olan gene- tik risk faktörleri araştırılmıştır. Bu çalışmada endotelin nitrik oksit sentaz (eNOS) gen polimorizmi ile AD ilişkisini araş- tırdık. Çalışma planı: Mayıs 2007 ile Haziran 2011 tarihle- ri arasında merkezimizde AD tanısı ile ameliyat olan ve sağ kalan hastalar geriye dönük olarak çalışmaya alın- dı. eNOS intron 4a/b polimorizmi, 27 bp VNTR intron 4’teki bölgenin yanını dolduran oligonükleotid primerler (sense: 5’AGGCCCTATGGTAGTGCCTTT-3’; antisense, 5’-CTCTTAGTGCTGTGGTCAC-3’) kullanılarak polimeraz zincir reaksiyonu (PCR) ile tespit edildi. Bulgular: Otuz dokuz hastada (%88) tip A diseksiyon, geri kalanda (%12) tip B AD vardı. eNOS 4a/b gen polimorizmi dağılımına baktığımızda AD grubunda eNOS 4a/a ve eNOS 4a/b sıklığı kontrol grubuna göre anlamlı olarak daha sık idi (χ 2 =7.16, p=0.03). Sonuç: Bu çalışmada, AD ve kontrol grubu arasında eNOS genotip dağılımı farklı bulunmasına rağmen, bu genetik poli- morizmin AD gelişimi için bağımsız bir faktor olduğu gösteri- lememiştir. Received: May 10, 2013 Accepted: September 11, 2013 Correspondence: Dr. Ahmet Ekmekci. Taşköprülüzade Sokak, No: 52, Kocamustafapaşa, İstanbul. Tel: +90 212 - 587 19 56 e-mail: ahmetekmekci@yahoo.com © 2014 Turkish Society of Cardiology 55 ABSTRACT ÖZET A ortic dissection (AD) is a catastrophic cardio- vascular disease (CVD) occurring secondary to formation of a tear in the intimal layer of the aorta that causes blood low between the true aortic lumen and a false lumen extending through the aortic wall. [1] The most important predisposing factors for acute AD are hypertension (HT), atherosclerosis, vasculitis (such as giant cell arteritis, Takayasu arteritis, rheu-