Evaluation of fibrinolytic system genetic variants in thrombophilia-predisposed individuals in southern Iran: a case–control study

Thrombophilia is a complex disorder that can result from an imbalance between fibrin formation and fibrinolysis. Although several genetic risk factors have been identified, many cases remain unexplained. The present study explores the potential link between the PAI-14G/5G (rs1799762), tissue-type plasminogen activator (t-PA) intron 8I/D, and the t-PA rs114534719 mutation with the risk of thrombophilia in a southern Iranian population. This case-control study included 96 patients with a clinical predisposition to thrombophilia and 96 age-matched and sex-matched healthy individuals as the control group. Genotyping was performed using the ARMS-PCR technique. The association between the genetic variants and the increased risk of thrombophilia was estimated using logistic regression, and the results were expressed as an odds ratio (OR) with a 95% confidence interval (CI). Statistical analysis revealed no significant differences in the genotypic and allelic frequencies of the PAI-14G/5G (P = 0.37) and t-PA intron 8I/D (P = 0.93) polymorphisms between the case and control groups. Regarding the t-PA rs114534719 mutation, all participants in both groups carried the wild-type TT genotype, and the mutant allele (C) was not detected in any sample. Furthermore, logistic regression and combined genotype analysis showed no statistically significant correlation between these variants and the risk of thrombophilia in the studied population. The studied genetic variants of the fibrinolytic system do not appear to be independent risk factors for thrombophilia in southern Iran, and the t-PA rs114534719 mutation appears to be extremely rare in this geographic region.