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A Journal on Angiology

Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
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International Angiology 2002 June;21(2):169-72


language: English

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.

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