| 2363 Polymorphisms In The Endothelial Nitric Oxide Synthase (eNOS) Gene Associated With Behçet's Disease | ||
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J. KARASNEH1, J. WORTHINGTON1, M.H. THORNHILL2, A.H. HAJEER1, A. GUL3, and W.E.R. OLLIER1, 1University of Manchester, United Kingdom, 2Bart's and the London, Queen Mary School of Medicine and Dentistry, United Kingdom, 3University of Istanbul, Turkey Objective: Behçet's disease (BD) is a recurrent acute systemic vasculitic disease characterised by recurrent oral aphthous ulcers. In BD, endothelial damage is caused by oxygen superoxides and intermediates produced by neutrophils. Endothelial nitric oxide is a potent vasodilator and inhibitor of monocyte, neutrophil and platelet adhesion, produced from L-arginine by NOS. The promoter region 786 T→C polymorphism has been reported to reduce eNOS promoter activity, and the 27bp VNTR in intron 4 affects the circulating NO level. The aim of this study was to investigate the role of eNOS gene polymorphisms in BD. Methods: Blood samples from 160 Turkish BD patients (56 with a family history) fulfilling the International Study Group criteria and 105 healthy Turkish controls were genotyped for the eNOS 786 T→C and 894 G→T polymorphisms by PCR-RFLP. The 27 bp VNTR was genotyped using PCR and agarose gel electrophoresis. Chi-square analysis was used to compare the allele and genotype frequencies of cases and controls. Results: There was a significantly increased allele and genotype frequency for the eNOS 786 T polymorphism (p=0.02; p=0.048 respectively) in BD cases compared to controls. The associations was even stronger in cases with a family history (p=0.0006; p=0.003 respectively). The bb genotype of the 27bp VNTR also occurred more often in BD and the combined *TT 786/*bb VNTR genotype occurred significantly more often in BD cases than controls (p=0.0012). Again the significance was even greater when analysis was restricted to BD cases with a family history (p£0.00001). No significant association was found with the 894 polymorphism. Conclusion: Individuals having the eNOS genotype *TT 786/*bb VNTR have an increased risk of developing BD disease (OR=2.42, 95%CI (1.4 - 4.13)) and the risk is even higher in those individuals having the genotype and a family history of BD (OR=4.61, 95%CI (2.3-9.3). | ||
| Seq #213 - Pathological Mechanisms - Mucosal Diseases, Odontogenic Cysts and Tumours 11:00 AM-12:15 PM, Friday, 8 March 2002 San Diego Convention Center Exhibit Hall C | ||
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