The association between the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor-1 gene and deep venous thrombosis in young people

Abstract

Objective: To evaluate the association between the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene and deep venous thrombosis (DVT) in young people. Methods: Prevalence of the 4G/5G polymorphism was investigated using DNA analysis in a population of 81 consecutive and unrelated patients with an objectively documented first episode of DVT under 40 years old and in a control group of 88 healthy subjects. Results: The frequency of genotypes among patients was 0.27 4G/4G, 0.49 4G/5G and 0.23 5G/5G, corresponding to a frequency of 0.52 for the 4G allele. In the control group the results were, respectively, 0.24, 0.44 and 0.32, corresponding to a frequency of 0.46 for the 4G allele. The odds ratio (OR) for homozygous 4G genotype was 1.5 (95% confidence interval: 0.7–3.6), which was not statistically significant ( P = 0.51). Conclusion: In this study, the 4G/5G polymorphism in the promoter of the PAI-1 gene, including the homozygous 4G genotype, was not associated with a significantly increased risk of DVT in young people.

Thrombophilia in venous leg ulcers: A comparative study in early and later onset

“…[15] In a population living in the same geographical region as ours (North of Portugal) the frequency of PAI-1 4G allele was of 76% in patients with a history of DVT before the age of 40 years and of 68% in healthy controls, this value being superior to other reports. [16] Our study has shown a very high prevalence of 4G allele in CVU patients (49 of 54 patients; 90.7%), and a significantly higher prevalence of homozygotes in patients with onset of CVU before the age of 50 years compared with later onset.…”

Genetic Polymorphisms and Risk of Recurrent Deep Venous Thrombosis in Young People: Prospective Cohort Study

“…For the PAI-1 polymorphism two mixes, one for each purpose, were constituted: 2 ml genomic DNA (100 ng), 10.8 ml H 2 O, 1.6 ml MgCl 2 (3 mM), 1 ml of each primer (10 mmol), 0.8 ml of each probe (5 mmol) and 2 ml DNA-Master hybridization probes. The oligonucleotide primers and probes 18 were synthesised by TIB MOLBIOL (Berlin, Germany). The wild-type complementary detection probes 3 0 -labelled with fluorescein covered the mutation site (sensor) and the adjacent anchor probes were 5 0 -labelled with the LC-Red640 dye (anchor).…”

The genetics of venous thromboembolism

“…A total of 14 studies (11,87,102,(158)(159)(160)(161)(162)(163)(164)(165)(166)(167)(168) were identified characterising the homozygous association between of the 4G allele and VTE with a pooled OR 1.20 ( 95% CI, 1.04-1.68, p=0.01; heterogeneity ([P Het ]=0.83, I 2 = 0%) (see Table 7B available online at www.thrombosis-online.com). The PAR was calculated at 4.2%…”