Behçet Hastalığında Endoteliyal Nitrik Oksit Sentaz Geni Glu298Asp, -786T>C ve İntron 4 a/b Polimorfizmleri

Glu298Asp, -786T>C, and Intron 4 a/b Polymorphisms of Endothelial Nitric Oxide Synthase Gene in Behçet's Disease

Abstract

Objectives: In this study, we investigated the relationship between endothelial nitric oxide synthase (eNOS) gene polymorphisms and predisposition to Behçet's disease. Patients and methods: One hundred and fifty-five unrelated patients (69 males, 86 females; mean age 40.5 years; range 14 to 66 years) and 98 healthy controls (43 males, 55 females; mean age 34.2 years; range 17 to 78 years) were examined for eNOS gene Glu298Asp, -786T>C and intron 4 a/b polymorphisms. Results: The GG genotype in the Glu298Asp polymorphism was found to be significantly higher in the patient group (p=0.02). The TT genotype in the -789T>C polymorphism was found to be more prevalent in the control group (p<0.001). The distribution of the intron 4 a/b polymorphism and allele frequencies did not differ significantly between the two groups. Conclusion: In our study, the -786T>C polymorphism was found to be correlated with Behçet's disease, irrespective of family history, age at onset of the disease, or clinical findings. The C allele was found to be more prevalent in patients with Behçet's disease. The intron 4 a/b and Glu298Asp polymorphisms were not found to be directly related to the disease

Özet

Amaç: Bu çalışmada endoteliyal nitrik oksit sentaz (eNOS) geni polimorfizmleri ile Behçet hastalığına yatkınlık arasındaki ilişki araştırıldı.Hastalar ve yöntemler: Akrabalık ilişkisi olmayan 155 hasta (69 erkek, 86 kadın; ort. yaş 40.5 yıl; dağılım 14-66 yıl) ve 98 sağlıklı kontrolde (43 erkek, 55 kadın; ort. yaş 34.2 yıl; dağılım 17-78 yıl) eNOS geni Glu298Asp, -786T>C ve intron 4 a/b polimorfizmleri incelendi.Bulgular: Glu298Asp polimorfizminde GG genotipinin, hasta grubunda anlamlı ölçüde yüksek olduğu saptandı (p=0.02). -789T>C polimorfizminde ise TT genotipi kontrol grubunda daha yaygın olarak bulundu (p C polimorfizminin Behçet hastalığı ile ilişkili olduğu gösterilmiştir. C aleli Behçet hastalığı olanlarda daha yaygın olarak bulundu. Intron 4 a/b ve Glu298Asp polimorfizmleri hastalıkla doğrudan ilişkili bulunmadı