Association of genetic polymorphisms with plasma TFPI level: Boon or curse for DVT patients - Study from India

Low plasma TFPI levels have been associated with an increased risk of DVT; however its association with TFPI gene polymorphisms is controversial and not yet studied in India. The aim of our study was to analyze prevalence of TFPI gene polymorphisms, evaluate their effects on its plasma levels and determine its association with DVT. Plasma level and genetic polymorphisms (33T > C, 399C > T and 536C > T) of TFPI were screened in subjects (100 DVT patients and 100 controls). Mean TFPI level in patients was significantly lower than controls (Patients: 33.55 ± 11.72 ng/ml, Controls: 48.05 ± 13.68 ng/ml, p < 0.001). DVT patients had significantly higher prevalence of 399C > T (p = 0.001, ORa: 5.69, CI: 1.14-28.46) and lower prevalence of 33T > C polymorphism (p < 0.001, ORa: 0.239, CI: 0.065-0.871). The wild type (TT genotype) of 33T > C and variant form (CT and TT genotype) of 399C > T polymorphism was significantly associated with low TFPI levels. TFPI 536C > T polymorphism was absent in all subjects. In conclusion, dual nature of TFPI gene polymorphisms were established in our association study; 33T > C being protective and 399C > T as an important risk factor in Indian DVT patients, probably mediated by alteration in TFPI levels. These findings may prove a vital role in risk stratification and treatment of DVT.