Efkan Uz1, H Ramazan Yilmaz2, Ramazan Yağci3, İsmail Akyol4, Tuğba Ersoy5, Gülten Sungur5, Ayşe Yiğit1, Sunay Duman5, Ömer Akyol6. 1. Department of Medical Genetics, Medical Faculty of Süleyman Demirel University, Isparta, Turkey. 2. Department of Medical Genetics, Medical Faculty of Mevlana University, Konya, Turkey. 3. Department of Ophthalmology, Medical Faculty of Pamukkale University, Denizli, Turkey. 4. Animal Science Genetics Unit, Kahramanmaraş Sütçü İmam University Faculty of Agriculture, Kahramanmaraş, Turkey. 5. Department of Ophthalmology, Ankara Training and Research Hospital, Ankara, Turkey. 6. Department of Medical Biochemistry, Medical Faculty of Hacettepe University, Ankara, Turkey.
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.
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.
Authors: Tracy J Lightfoot; Christine F Skibola; Alex G Smith; Matthew S Forrest; Peter J Adamson; Gareth J Morgan; Paige M Bracci; Eve Roman; Martyn T Smith; Elizabeth A Holly Journal: Haematologica Date: 2006-09 Impact factor: 9.941