The 4G/5G polymorphism in the PAI-1 inhibitor gene

SUMMARY Cerebral venous thrombosis (CVT) disease is a rare but serious pathology. It is a multifactorial disease resulting from the combination of several risk factors. This case-control study aims to explore the impact of the -675 4G/5G polymorphism of the PAI-1 gene on CVT disease in the young Tunisian population. 30 patients with CVT and 60 controls were recruited for this study. DNA was isolated from whole blood and genotyping of the -675 4G/5G polymorphism of PAI-1 was performed by PCR-AS technique. The risk of association was estimated by calculating the odds ratio (OR) with a 95% confidence interval.The mean age of patients was 36.97 ± 8.231 years and33 80± 8.517years in controls with a female predominance (63% vs 37%). The frequency of PAI-1 genotypes in 25% 5G/5G; 62%4G/5G; 13%4G/4G in patients compared with 23% 5G/5G; 40%4G/5G; 37%4G/4G in controls. The homozygous 4G/4G genotype was significantly associated with an increased risk of stroke occurrence (OR: 2.444 CI95% [1.101-5.676]; p: 0.020).In conclusion the study we conducted confirms that the -675 4G/5G polymorphism of