Tohoku J. Exp. Med., 2009, 219(1)

The Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene Is Associated with Acute Aortic Dissection

NIHAT KALAY,¹ OKAY CAGLAYAN,² HASAN AKKAYA,¹ IBRAHIM OZDOGRU,¹ ALI DOGAN,¹ MEHMET TUGRUL INANC,¹ MEHMET GUNGOR KAYA,¹ ALI ERGIN,¹ RAMAZAN TOPSAKAL,¹ DAVRAN ÇIÇEK,³ NAMIK KEMAL ERYOL,¹ KUTAY TASDEMIR,⁴ ABDURRAHMAN OGUZHAN¹ and MUNIS DUNDAR²

¹Department of Cardiology, Erciyes University, Medical Faculty, Kayseri, Turkey
²Department of Medical Genetic, Erciyes University, Medical Faculty, Kayseri, Turkey
³Bakent University, School of Medicine, Department of Cardiology, Antalya, Turkey
⁴Department of Cardiovascular Surgery, Erciyes University, Medical Faculty, Kayseri, Turkey

Aortic dissection (AD) is a disease characterized by tear of the aortic intimal layer and separation of the arterial wall. Some risk factor such as hypertension and Marfan syndrome is well known in AD. However, the role of genetic factors in AD is largely unknown. Insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with cardiovascular diseases; patients with D allele have higher serum and tissue ACE levels. We investigated the relationship between the I/D polymorphism of the ACE gene and non-syndromic acute AD. Sixteen patients diagnosed with AD were included in the study (mean age: 60.1 ± 6.2 years). The diagnosis was established by clinical evaluation and imaging techniques. The control group consisted of 22 age-matched patients without AD (60.9 ± 7.3 years), who suffered from chest pain. Incidence of hypertension was similar in dissection and control groups (62% vs. 59%). The I/D polymorphism was investigated in both groups by PCR analysis. Dissection types according to the DeBakey classification were identified as type 1 (proximal + distal) in 7 patients (43%), type 2 (proximal) in 5 patients (31%), and type 3 (distal) in 4 patients (25%). The D/D and D/I polymorphisms are present in 13 and 3 AD patients, respectively. None of patients with AD have the II polymorphism. The frequencies of the D allele (DD + ID) are significantly higher in dissection group than control (100% vs. 68%, P < 0001). These results indicate that the D allele of ACE gene is a risk factor for AD.

keywords —— Aortic dissection; Angiotensin Converting Enzime; Gene polymorphism; Chest pain; Hypertension.

© 2009 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2009, 219, 33-37

Correspondence: Nihat Kalay, M.D., FESC, Department of Cardiology, Erciyes University Medical Faculty, Kayseri, Turkey.

e-mail: nihatkalay@hotmail.com