Document Detail

Genetic evaluation of the common variant of the endothelial nitric oxide synthase (Glu(298)-><Asp) in patients with thromboangiitis obliterans.
MedLine Citation:
PMID:  12110779     Owner:  NLM     Status:  MEDLINE    
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 thromboangiitis 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 (Glu(298)-->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 Glu(298)-->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 Asp(298) was slightly elevated in the patient group with 11.9 versus 8.1% in the control group. Allele frequency for Asp(298) was 0.333. CONCLUSIONS: Our data do not show elevated homozygosity for the common variant Glu(298)-->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.
M Brodmann; W Renner; G Seinost; E Pabst; G Stark; E Pilger
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  International angiology : a journal of the International Union of Angiology     Volume:  21     ISSN:  0392-9590     ISO Abbreviation:  Int Angiol     Publication Date:  2002 Jun 
Date Detail:
Created Date:  2002-07-11     Completed Date:  2002-12-03     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8402693     Medline TA:  Int Angiol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  169-72     Citation Subset:  IM    
Division of Angiology, Department of Internal Medicine, Karl-Franzens University Graz, Graz, Austria.
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MeSH Terms
Aspartic Acid / genetics
Case-Control Studies
Endothelium, Vascular / enzymology
Genetic Variation
Glutamic Acid / genetics
Middle Aged
Nitric Oxide Synthase / genetics*
Nitric Oxide Synthase Type III
Polymorphism, Genetic
Thromboangiitis Obliterans / enzymology*
Reg. No./Substance:
56-84-8/Aspartic Acid; 56-86-0/Glutamic Acid; EC protein, human; EC Oxide Synthase; EC Oxide Synthase Type III

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