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. 2024 Apr;40(2):331-334.
doi: 10.1007/s12288-023-01660-3. Epub 2023 May 8.

Plasminogen Activator Inhibitor-1 4G/5G Promoter Polymorphism in Indian Patients with Deep Vein Thrombosis

Saniya Sharma  1 , Manu Jamwal  1 , Varun Uppal  1 , Hari Kishan Senee  1 , Manav Jindal  1 , Jasmina Ahluwalia  1 , Reena Das  1 , Neelam Varma  1 , Pankaj Malhotra  2 , Narender Kumar  1
Affiliations

Plasminogen Activator Inhibitor-1 4G/5G Promoter Polymorphism in Indian Patients with Deep Vein Thrombosis

Saniya Sharma et al. Indian J Hematol Blood Transfus. 2024 Apr.

Abstract

A single guanosine deletion/insertion (4G/5G) polymorphism in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene encoding PAI-1 protein has been investigated in deep vein thrombosis (DVT) patients. The association between PAI-1 4G/5G polymorphism and increased risk of DVT has been reported in some studies, while others have reported a lack of association. The present study aimed to investigate if the PAI-1 4G/5G polymorphism is associated with an increased risk of DVT in the Indian population and to assess its association with thrombophilic risk factors. Fifty-two adult patients with a history of chronic or recurrent DVT and 52 healthy adult controls were genotyped for PAI-1 4G/5G polymorphism. Plasma levels of PAI-1 and other thrombophilic risk factors were also measured. PAI-1 4G/5G polymorphism was not significantly associated with an increased risk of DVT. Protein C deficiency was significantly associated with the 4G/4G genotype. Patients with the 4G/4G genotype had significantly reduced PAI-1 levels as compared to the controls. PAI-1 4G/5G polymorphism did not significantly contribute to an increased risk of DVT in the Indian population. However, in the presence of thrombophilic risk factor abnormalities, the risk of DVT is increased in individuals with the 4G/4G genotype in the Indian cohort.

Supplementary information: The online version contains supplementary material available at 10.1007/s12288-023-01660-3.

Keywords: Deep vein thrombosis; Fibrinolysis; PAI-1 4G/5G polymorphism; Plasminogen activator inhibitor-1; Thrombophilia.

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Conflict of interest statement

Conflict of interestThe authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Ethidium bromide-stained 3% agarose gel showing amplified products of PAI-1 4G/5G polymorphism by ARMS PCR. Lanes 1 and 2 display the products of amplification with a primer specific to the 5G allele (138 bp); Lanes 3 and 4, 5 and 6, 7 and 8, 12 and 13, represent 4G/5G genotype (138 bp each); and lanes 10 and 11, 14 and 15 represent 4G allele (138 bp). Lane 9 is the DNA ladder
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