Malik Ejder YILDIRIM, Nadir KOÇAK, Filiz ÖZEN, Öztürk ÖZDEMİR

Anjiotensin Dönüştüren Enzim (ACE) İnsersiyon/Delesyon (I/D) Gen Polimorfizmi

Amaç: Anjiotensin Dönüştüren Enzim (ACE), başta renin-anjiotensin-aldosteron sistemi (RAAS) olmak üzere bir çok fizyolojik veya metabolik olayda doğrudan ya da dolaylı etkisi olan bir ekzopeptidazdır. Anjiotensin 1'i vazoaktif ve aldosteron stimülan bir peptid olan anjiotensin 2'ye dönüştürür ve bradikinin'i kinin yıkım ürünlerine parçalar. Anjiotensin 2 ve bradikinin sistem üzerine multipl akut ve kronik etkileri olan güçlü vazoaktif moleküllerdir. İlki güçlü bir vazokonstrüktör, ikincisi ise güçlü bir vazodilatatördür. ACE'in bu özellikleri onu hipertansiyonda, kalp yetmezliğinde, tip 2 diabette ve diabetik nefropati tedavisinde ideal bir hedef haline getirmiştir. İki önemli hormonal düzenleyici sistem (RAAS) ve Kallikrein Kinin Sistemi] üzerindeki yaşamsal rolü nedeniyle ACE yapı ve fonksiyonda önemli bir etkiye sahiptir. ACE'e ait insersiyon/delesyon (I/D) gen polimorfizminin (II, ID, DD) hipertansiyon, kalp yetmezliği, myokardial infarktüs, diabet, diabetik nefropati ve kanser gibi bir çok hastalıkta, hastalığın oluşma riski, şiddeti, seyri ve tedaviye yanıtını etkilediğine dair çalışmalar vardır. Materyal ve Metod: Bu çalışmada, Sivas ve çevresinde ACE insersiyon/delesyon (I/D) gen polimorfizmi ve allel sıklığını belirlemeyi amaçladık. Normal populasyondan seçilen 222 kişi reverse hibridizasyon yöntemi kullanılarak ACE gen polimorfizmi açısından değerlendirildi. Sonuç: Test edilen olgularda DD genotipi %32.8, ID genotipi %53.2 ve II genotipi %14 olarak bulundu (D allel frekansı 0.59, I allel frekansı 0.41). Sonuçlarımız, ACE gen polimorfizmi ve alel sıklığı açısından araştırma bölgesinin Türkiye ve diğer Avrupa ülkeleri ile uyumlu olduğunu göstermektedir. Anahtar Sözcükler: ACE, İnsersiyon, Delesyon, Polimorfizm.

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Angiotensin Converting Enzyme (ACE) Insertion/Deletion (I/D) Gene Polymorphism

Aim: With its pivotal role in the renin-angiotensin-aldesteron system (RAAS), angiotensin converting enzyme is an exopeptidase that has an effect in many physiological or metabolic events as direct or indirect. It catalyzes the conversion of angiotensin I to angiotensin II (vasoactive and aldosterone-stimulating peptide) and the breakdown of bradykinin to kinin degradation products. Angiotensin II and bradykinin are powerful vasoactive molecules with multiple acute and chronic effects on the cardiovascular system. The first is a potent vasoconstrictor and the other is a potent vasodilatatör. These two actions of ACE make it an ideal target in the treatment of conditions such as high blood pressure, heart failure, diabetic nephropathy and type 2 diabetes mellitus. With its main role in two important cardiovascular hormonal regulatory systems (RAAS) and Kallikrein-Kinin System], ACE has an important impact on cardiovascular structure and function. There are a lot of research and report about the effect of ACE insertion deletion (I/D) gene polymorphism on risk, prognosis and reaction to treatment of many diseases such as hypertension, hearth failure, myocardial infarct, diabetes, diabetic nephropathy and cancer. Materials and Methods: In this study, we aimed to detect ACE I/D gene polymorphism and allele frequencies in Sivas and its peripheric regions. 222 case from normal population have been evaluated for ACE gene polymorphism by the reverse hybridization technique. Conclusions: The DD genotype was found in 32.8%, ID genotype in 53.2%, and II genotypein 14% of the subjects tested. The frequency of D allele was 0.59 and I allele was 0.41. Our conclusions indicate that, the distribution of ACE I/D polymorphism and allele frequencies in Sivas were not significiantly different from Turkey and the other European countries. Key words: ACE, Insertion, Deletion, Polymorphism.

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