Sedat Ozan KARAKİŞİ, Şahin BOZOK, Cemal ASLAN, Mustafa EMİR, Hakan KARAMUSTAFA, Buğra DESTAN, Nebiye TÜFEKÇİ, Gökhan İLHAN, Mustafa ÇETİN

Association between deletion polymorphism of angiotensin converting enzyme gene and pulmonary hypertension in pulmonary thromboembolism

Amaç: Bu çalışmada, değişik nedenlere bağlı pulmoner tromboemboli (PTE) gelişmiş ACE geninin insersiyon/ delesyon (I/D) polimorfizmi olan hastalarda bu durum ile pulmoner arteryel basınç arasındaki ilişki araştırıldı. Çalışma planı: Çalışmaya toplam 48 hasta (23 kadın, 25 erkek; ort. yaş 60±13 yıl; dağılım 42-78 yıl) dahil edildi. Pulmoner tromboembolili hastalar ACE D allel taşıyıp taşımamalarına göre sınıflandırıldı. Grup 1 vahşi tip taşıyıcısı hastalarda oluşurken, grup 2 ACE D alleli taşıyıcısı hastalardan oluşturuldu. Bulgular: Hastaların 28’inde (%58) ACE ID (heterozigot) genotip, altısında (%13) ACE DD (homozigot) genotip mevcut idi. Kalan 14’ünde (%29) ACE genine ait delesyon alleli yok idi. Ortalama sistolik pulmoner arter basıncı (sPAP) ID genotipli hastalarda 45.7±17 mmHg, DD genotipli hastalarda 70.1±20 mmHg ve genotip II hastalarda 32.5±9 mmHg idi. ACE D allel taşıyan hastalarla taşımayanlar arasında yapılan karşılaştırmada, ACE D allel taşıyıcılığı belirgin olarak daha yüksek sPAP görüldü (32.5±8.8 karşın 50.8±20 mmHg, p=0.017). ACE D allelini taşımak (Exp(B): 7.331, p=0.032) PTE’si olan hastalarda pulmoner hipertansiyonun bağımsız göstergesi olarak bulundu. Sonuç: Sonuç olarak, ACE geninin delesyon polimorfizmi olan PTE’li olgularda pulmoner hipertansiyonun gelişme riskinin daha yüksek olduğuna inanıyoruz. Bu nedenle, ACE geninin bu hastalarda değerlendirilmesi, hastalığın etyoloji ve prognozunu aydınlatmaya katkıda bulunacaktır.

Pulmoner tromboembolide pulmoner hipertansiyon ile anjiyotensin dönüştürücü enzim geninin delesyonel polimorfizmi arasındaki bağlantı

Background: This study aims to identify the association between pulmonary arterial pressure and insertion/deletion (I/D) polymorphism of ACE gene in the patients with pulmonary thromboembolism (PTE) due to various reasons. Methods: A total of 48 patients (23 females, 25 males; mean age 60±13 years; range 42 to 78 years) were included in the study. Patients with PTE were classified according to carrying of ACE D allele. Group 1 consisted of patients with wild type, while group 2 consisted of patients with ACE D allele carrier. Results: Tweny-eight patients (58%) had ACE ID (heterozygous) genotype, while six (13%) had ACE DD (homozygous) genotype. The remaining 14 (29%) had no deletion allele of ACE gene. The mean systolic pulmonary arterial pressure (sPAP) was 45.7±17 mmHg in patients with ID genotype, 70.1±20 mmHg in those with DD genotype, and 32.5±9 mmHg in those with II genotype. The comparison of the patients who carried ACE D allele with those who did not demonstrated that the former group had significantly higher levels of sPAP (32.5±8.8 versus 50.8±20 mmHg, p=0.017). It was found that carrying of ACE D allele (Exp(B): 7.331, p=0.032) was found to be independent predictor of pulmonary hypertension in patients with PTE. Conclusion: In conclusion, we believe that the risk for the development of pulmonary hypertension is higher especially in PTE cases with deletion polymorphism of ACE gene. Therefore, evaluation of the ACE gene in these patients will contribute to shed light into the etiology and prognosis of the disease.

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