Glu298Asp, -786T>C, and Intron 4 a/b Polymorphisms of Endothelial Nitric Oxide Synthase Gene in Behçet's Disease
Remin AKÇAY TAN, 1 Halil Gürhan KARABULUT, 2 Ayşe BOYVAT, 3 Işık BÖKESOY2
1Department of Genetic Diagnosis Center, Alman Hospital, İstanbul, Turkey
2Department of Medical Genetics, Medical Faculty of Ankara University, Ankara, Turkey
3Department of Dermatology, Medical Faculty of Ankara University, Ankara, Turkey
Keywords: Behçet's disease/diagnosis/etiology/genetics, nitric oxide synthase, polymorphisms
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.