Oğuz KARAHAN, Nurkay KATRANCIOĞLU, Öztürk ÖZDEMİR, Öcal BERKAN, Şinasi MANDUZ, Erhan ATAHAN, Murat AYDIN

Kemokin reseptör 5 Δ32 gen polimorfizmi ve abdominal aort anevrizmaları

Amaç: Bu çalışmada abdominal aort anevrizması (AAA) ve kemokin reseptör 5 Δ32 (CCR5) gen polimorfizmi arasındaki ilişki, bir risk faktörü olarak, araştırıldı.Çalışma planı: Mayıs 2008 - Mart 2009 tarihleri arasında kliniğimizde AAA tanısı ile ameliyat edilen 58 hasta (41 erkek, 17 kadın; ort. yaş 62.9±6.5 yıl; dağılım 45-78 yıl) ile abdominal bilgisayarlı tomografide aort çapları normal olarak ölçülen 58 sağlıklı gönüllü (38 erkek, 20 kadın; ort. yaş 58.8±11.6; dağılım 30-79 yıl) çalışmaya alındı. Periferik kan dokularından olgulara ait genomik DNA'lar elde edilerek CCR5 geninde 32 baz p delesyonu tarandı.Bulgular: Abdominal aort anevrizması gelişimi için predispozan risk faktörleri yönünden karşılaştırıldıklarında gruplar arasında anlamlı farklılık saptanamadı (p>0.05). Abdominal aort anevrizmalı grupta 11 hastada (%19.0) heterozigot CCR5 gen mutasyonu varken kontrol grubunda sadece bir bireyde (%1.7) heterozigot CCR5 gen mutasyonu saptandı. Hastaların 47'sinde (%81.0) CCR5 homozigot normal iken, kontrol grubundaki gönüllü bireylerin 57'sinde (%98.3) CCR5 homozigot normaldi. Kemokin reseptör 5 Δ32 heterozigot gen mutasyonu AAA grubunda anlamlı derecede yüksek idi (p=0.004).Sonuç: Sonuç olarak, bu çalışmada CCR5 gen polimorfizmi ile AAA arasında bir ilişki olduğu gösterildi. Abdominal aort anevrizması gelişimine neden olan değiştirilemeyen etyolojik faktörler arasında genetik faktörlerin olduğunu düşünüyor ve genetik yatkınlığı olan kişilerde daha sık yapılacak kontrollerle AAA'nın ciddi komplikasyonları ortaya çıkmadan tedavilerinin yapılabileceğine inanıyoruz.

Chemokine receptor 5 Δ32 gene polymorphism and abdominal aortic aneurysms

Background: In this study, we aimed to investigate the relationship between abdominal aortic aneurysm (AAA) and chemokine receptor 5 Δ32 (CCR5) gene polymorphism as a risk factor.Methods: Fifty-eight patients (41 males, 17 females; mean age 62.9±6.5 years; range 45 to 78 years) operated on our clinic between May 2008 and March 2009 with the diagnosis of AAA, and 58 healthy volunteers (38 males, 20 females; mean age 58.8±11.6 years; range 30 to 79 years) with normal aortic diameters measured by computed tomography were included in this study. Thirty-two base p deletions in the CCR5 gene were screened after obtaining genomic DNAs from peripheral blood samples of the patients.Results: When the groups were compared with the predisposing risk factors for the development of AAA, no significant difference was observed (p>0.05). Eleven patients (19.0%) had heterozygote CCR5 gene mutation in the AAA group, however, only one patient (1.7%) had heterozygote CCR5 gene mutation in the control group. While the CCR5 homozygote was normal in 47 (81.0%) patients, the CCR5 homozygote was normal in 57 (98.3%) volunteers in the control group. Chemokine receptor 5 Δ32 heterozygote gene mutation was significantly higher in the AAA group. (p=0.004).Conclusion: Consequently, a relationship between CCR5 gene polymorphism and AAA was demonstrated in this study. We think that hereditary factors considered between unchanged etiologic factors play a role in the development of AAA and we believe that AAA can be treated before serious complications occur with frequent clinical check ups in people with hereditary predisposition.

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