Ömer Naci EMİROĞULLARI, Aydın TUNÇAY, Elif Funda ŞENER, Rıfat ÖZMEN

Aort anevrizması ve aort diseksiyonu gelişiminin genetik faktörler ile ilişkisi

Amaç: Bu çalışmada aort diseksiyonu ve anevrizma gelişimi ile anjiyotensin dönüştürücü enzim geni, metilentetrahidrofolat redüktaz geni, plazminojen aktivatör inhibitör-1 geni ve nitrik oksit sentaz geni polimorfizmleri arasındaki ilişki araştırıldı. Çalışma planı: Bu kesitsel çalışmaya Nisan 2009 - Temmuz 2014 tarihleri arasında aort diseksiyonu olan 38 hasta (28 erkek, 10 kadın; ort. yaş 55.1±10.7 yıl; dağılım 30-78 yıl) ve aort anevrizması olan 67 hasta (57 erkek,10 kadın; ort. yaş 63.0±11.4 yıl; dağılım 31-82 yıl) alındı. Kontrol grubu, torakoabdominal bilgisayarlı tomografi ile değerlendirildiği üzere, aort anevrizması veya diseksiyonu olmayan 60 sağlıklı gönüllüden (41 erkek, 19 kadın; ort. yaş 56.3±11.2 yıl; dağılım 30-82 yıl) oluşuyordu. Belirtilen dört genin, kompetitif allel spesifik-polimeraz zincir reaksiyonu ile genotiplemesi yapıldı. Bulgular: Kontrol grubuna kıyasla, aort diseksiyonu grubunda nitrik oksit sentaz-3 (4b/4b) ekspresyon düzeyi daha yüksekti. Kontrol grubuna kıyasla, aort anevrizması grubunda nitrik oksit sentaz-3 (4b/4a) ekspresyon düzeyi daha yüksekti. İstatistiksel olarak anlamlı olmamakla birlikte, kontrol grubuna kıyasla, anevrizma grubunda daha yüksek oranda anjiyotensin dönüştürücü enzim I/D gen polimorfizmi saptanır iken, diseksiyon grubunda daha yüksek D/D polimorfizm oranlarına rastlandı. Sonuç: Çalışma sonuçlarımız, nitrik oksit sentaz-3 intron 4b/4b ve nitrik oksit sentaz-3 intron 4b/4a gen polimorfizmlerinin, aort diseksiyonu ve anevrizma gelişiminin bir öngördürücüsü olarak kullanılabileceğini göstermektedir.

Relationship of genetic factors with development of aortic dissection and aneurysm

Background: This study aims to investigate the relationshipbetween the development of aortic dissections and aneurysmswith the polymorphisms of angiotensin converting enzyme gene,methylenetetrahydrofolate reductase gene, plasminogen activatorinhibitor-1 gene, and nitric oxide synthase gene.Methods: Between April 2009 and July 2014, 38 patients with aorticdissections (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) wereincluded in this cross-sectional study. The control group consistedof 60 healthy volunteers (41 males, 19 females; mean age 56.3±11.2years; range, 30 to 82 years) without an aortic aneurysm ordissection, as assessed by thoracoabdominal computed tomography.The prespecified four genes were genotyped with competitive allelespecificpolymerase chain reaction.Results: The aortic dissection group had higher nitric oxidesynthase-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. Comparedto the control group, a higher rate of angiotensin converting enzymeI/D gene polymorphism was detected in the aneurysm group, whilehigher D/D polymorphism rates were found in the dissection group;although not statistically significant.Conclusion: Our study results suggest that the nitric oxidesynthase-3 intron 4b/4b and nitric oxide synthase-3 intron 4b/4agene polymorphisms can be used as a predictor of aortic dissectionand aneurysm development.

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