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Rivista di Angiologia
Official Journal of the , the International Union of Phlebology and the
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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International Angiology 2002 Giugno;21(2):169-72
Genetic evaluation of the common variant of the endothelial nitric oxide synthase (Glu298 →Asp) in patients with thrombangiitis obliterans
Brodmann M., Renner W., Seinost G., Pabst E., Stark G., Pilger E.
Division of Angiology, Department of Internal Medicine, Karl-Franzens University Graz, Graz, Austria
Background. Nitric oxide is synthesized by endothelial nitric oxide synthase and plays a key role in adequate endothelial function. An important effect is the reduction of free radicals caused by cigarette smoking, which is the only established risk factor for thrombangiitis obliterans (TAO). In patients with TAO a genetic defect of endothelial nitric oxide synthase may therefore result in deteriorated endothelial function. The aim of our study was to evaluate whether a genetic defect of the common variant of endothelial nitric oxide synthase (Glu298 →Asp) can be found in a higher degree in patients with TAO compared to healthy controls.
Methods. We enrolled 42 patients with TAO and 149 healthy subjects.
Results. Nineteen patients (45.2%) showed homozygosity for Glu 298 versus 76 (51%) in the control group. The heterozygous status for Glu298 →Asp was found among 18 patients (42.9%) compared to 61 (40.9%) members of the control group, which was a nearly equal distribution. Homozygosity for the mutant Asp298 was slightly elevated in the patient group with 11.9 versus 8.1% in the control group. Allele frequency for Asp298 was 0.333.
Conclusions. Our data do not show elevated homozygosity for the common variant Glu298 →Asp in patients with TAO compared to healthy controls. The limitation of our evaluation is the small number of patients, which is a general problem when evaluating patients with TAO, as this is not a common disease.