Efkan UZ1, H. Ramazan YILMAZ2, Ramazan YAĞCI3, İsmail AKYOL4, Tuğba ERSOY5, Gülten SUNGUR5, Ayşe YİĞİT1, Sunay DUMAN5, Ömer AKYOL6

1Department of Medical Genetics, Medical Faculty of Süleyman Demirel University, Isparta, Turkey
2Department of Medical Genetics, Medical Faculty of Mevlana University, Konya, Turkey
3Department of Ophthalmology, Medical Faculty of Pamukkale University, Denizli, Turkey
4Animal Science Genetics Unit, Kahramanmaraş Sütçü İmam University Faculty of Agriculture, Kahramanmaraş, Turkey
5Department of Ophthalmology, Ankara Training and Research Hospital, Ankara, Turkey
6Department of Medical Biochemistry, Medical Faculty of Hacettepe University, Ankara, Turkey

Keywords: Behçet’s disease, manganese superoxide dismutase, polymerase chain reaction-restriction fragment length polymorphism, polymorphism

Abstract

Objectives: This study aims to investigate the genetic association between single nucleotide mutation in mitochondrial manganese superoxide dismutase and a Behçet’s disease (BD) population by using molecular techniques.
Patients and methods: Ninety-three BD patients (45 males, 48 females; mean age 33.15±8.99 years; range 17 to 65 years) and 125 controls (58 males, 67 females; mean age 28.33±7.31 years; range 18 to 62 years) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The genotypic distributions in BD patients and controls were consistent with the Hardy-Weinberg equilibrium.
Results: Significant differences were observed between BD patients and controls in terms of genotypic distribution. Frequencies of alanine (Ala)/Ala, Ala/valine (Val), and Val/Val were 14.0% (n=13), 45.2% (n=42), and 40.9% (n=38) in BD patients and 21.6% (n=27), 53.6% (n=67), and 24.8% (n=31) in controls, respectively (p=0.033).
Conclusion: The Val/Val genotype of the manganese superoxide dismutase gene is associated with the physiopathology of BD in a group of Turkish patients.