A NOVEL G/A AND THE 4G/5G POLYMORPHISM WITHIN THE PROMOTER OF THE PLASMINOGEN ACTIVATOR INHIBITOR-1 GENE IN PATIENTS WITH DEEP VEIN THROMBOSIS
Section snippets
Subjects
All subjects investigated were Caucasian, originated from Central Europe and were unrelated. They were asked to participate after they had given their full informed consent. The study was approved by the Slovene Ethical Committee.
Eighty-three consecutive patients (35 women and 48 men) aged 19 to 60 (42±11, mean±SD) years, were asked to participate at least three months, but on average 18±10 months (mean±SD) after acute DVT. At the time of the acute event clinical diagnosis of DVT was confirmed
RESULTS
The patients and the controls had similar age and gender distribution. The two groups did not differ significantly in body mass index, fasting blood glucose, HDL-cholesterol and triglyceride levels. On the other hand, patients had higher levels of total- and LDL-cholesterol than controls (Table 1).
In two of the PAI-1 promoter fragments single-strand conformation polymorphism was found. Fragment IV (Fig. 1) contained previously described 4G/5G deletion/insertion polymorphism at −675 bp from the
DISCUSSION
In this study a novel polymorphism in the promoter of the PAI-1 gene is described. This polymorphic site is located −844 bp upstream from the transcription start and represents a single guanine to adenine substitution (G/A polymorphism) according to the published sequence [17]. The distribution of the G/A genotypes both in the patient and in the control group differed from the distribution that would be expected from the Hardy-Weinberg equilibrium, with an over dominance of heterozygotes. The
Acknowledgements
The study was conducted while M. Stegnar was the recipient of a Slovenian Science Foundation Fellowship. Advice on genetic data of W. Pinsker (Institute for Medical Biology, University of Vienna), advice and help with the electrophoretic mobility shift assays of E. Hofer and technical assistance of M. Tehovnik are gratefully acknowledged. The study was supported by a grant No. 5566 from Austrian National Bank and grant No. J3-7822 from the Slovenian Ministry of Science and Technology. The
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