Funda COŞKUN, Mutlu KARKUCAK, Dilber YILMAZ, Esra UZASLAN KUNT, Tahsin YAKUT

Ace gene ı/d polymorphism and risk of sarcoidosis development in turkish patients

iriş: Sarkoidozun etyolojisi bilinmemektedir fakat farklı etnik gruplar ve tek yumurta ikizlerindeki prevalansı, ailevi özel- liklerine bakıldığında genetik predispozisyon olası bir faktör olabilir. Sarkoidozun patofizyolojisinde anjiyotensin dönüştürücü enzim (ACE) gösterilmiştir. Bu araştırmanın amacı; ACE I/D (Insertion/Deletion) polimorfizminin sarkoidoz gelişimine olan etkisini araştırmaktır. Hastalar ve Metod: Çalışmamız 70 Türk, histopatolojik olarak tanı konmuş sarkoidoz hastası ve 69 sağlıklı, cinsiyet ve yaş açısından eşlenmiş kontrol içeriyordu. ACE I/D polimorfizmini analiz etmek için polimeraz zincir reaksiyonu kullanıldı. Agaroz jel elektroforezinde oluşan bantlara göre genotip tayini yapıldı. İstatistiksel analiz için ki-kare testi kullanıldı ve an- lamlılık değeri p< 0.05 olarak kabul edildi. Bulgular: Sarkoidoz grubunda D allelinin sıklığı daha fazla olmasına rağmen, D allelinin sıklığı sırasıyla sarkoidoz ve kont- rol grubunda %67 ve %54 idi. Sarkoidoz ve kontrol grubu arasında I/I, I/D, D/D polimorfizmlerinin sıklığı açısından anlam- lı farklılık saptanmadı (p> 0.05). Benzer olarak I/I, I/D, D/D polimorfizmlerinin sıklığı açısından akciğer dışı organ tutulu- mu olan sarkoidoz hastalarıyla akciğer dışı organ tutulumu olmayan hastalar arasında farklılık yoktu (p> 0.05). Sonuç: Bizim bulgularımıza göre ACE gen polimorfizminin Türk sarkoidoz hastalarında hastalığın gelişimine katkısı sağ- lıklı kontrollerden farklı değildi.

Türk sarkoidoz hastalarında ACE gen polimorfizmi ve sarkoidoz gelişme riski

Introduction: Etiology of sarcoidosis is unknown but the prevalence of disease in different ethnic groups and identical twins, family characteristics indicate that genetic predisposition is a possible factor. The angiotensin-converting enzyme (ACE) has been implicated in the pahophysiology of sarcoidosis. The aim of this study is to investigate the influence of a polymorphism in I/D (Insertion/Deletion) of the ACE gene on the susceptibility to sarcoidosis. Patients and Methods: Our study included 70 Turkish patients who had histopathological diagnosis of sarcoidosis and 69 healthy age and sex matched control subjects. Polymerase chain reaction was used for analysing an I/D polymorphism in the gene coding for ACE. Genotyping was done according to bands that were formed on the agarose gel electrophoresis. Chi-square test was used for statistical analysis and p< 0.05 was accepted as significance. Results: Although the D allele was more frequent in the sarcoidosis patients group, the frequency of the D allele was 67% and 54% respectively in the sarcoidosis and the control group. No significant difference in allele frequencies of I/I, I/D, D/D polymorphisms was observed between the sarcoidosis and control group (p> 0.05). Similarly allele frequencies of I/I, I/D, D/D polymorphisms was not different between sarcoidosis patients with extrapulmonary involvement and sarcoidosis patients without extrapulmonary involvement (p> 0.05). Conclusion: Our findings have showed that contribution of ACE gene polymorphisms to susceptibility of disease develop- ment in Turkish sarcoidosis patients is not different from the healthy control subjects.

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