Abstract Number: PB0383
Meeting: ISTH 2020 Congress
Background: Endothelial Protein C Receptor (EPCR) augments PC activation via binding with thrombin-thrombomodulin complex. EPCR polymorphisms have been reported to influence the risk of DVT whereas their association with Indian DVT patient is not yet studied.
Aims: To identify the prevalence of EPCR gene polymorphisms (4678G>C and 6936A>G) and their role in young Indian DVT patients.
Methods: 75 DVT patients (M:36, F:39), median age 35 years range (20-45 years) and 75 age and sex matched healthy controls were studied. EPCR gene polymorphisms were detected by allele specific PCR.
Results: DVT was seen in lower limb in 65 (86%) patients and upper limb in 10 (14%) patients.
The variant allele C for 4678G>C was significantly higher in controls than patients (Patients: C=6%, Control: C=12.6%, p=0.047) but frequency of variant genotypes (GC, CC) were not significantly increased. (Patients:GC=20%,CC=2.6%,Controls:GC=9.3%, CC=1.3%. p=0.143, χ2=3.89). The allele frequency of variant allele G for 6936A>G polymorphism was significantly higher in patients than controls (Patient: G=16%, Control: G=6%, p=0.011, χ2=6.50). Genotypic frequency of AG and GG genotype was also significantly increased (Patients:AG=24%, GG=4%, Controls:AG=10.6%, GG=1.3%, p=0.040, χ2=6.04). Subjects carrying AG and GG genotypes had an increased risk of DVT (AG: OR: 2.55, CI: (1.11-6.62), GG: OR: 3.26, (CI: 0.680-32.46).
Conclusions: Protective role of 4678G>C polymorphism was identified which is similar to the results obtained from west, where as 6936G>A polymorphism has a causative role in the development of DVT. Therefore, EPCR 693A>G polymorphism detection may help in identifying young Indians having high risk of DVT.
To cite this abstract in AMA style:Sharma A, Kishor K, Biswas A, Ranjan R, Kumar R, Tyagi S, Oldenburg J, Saxena R, Mahapatra M. Role of Endothelial Protein C Receptor Gene Polymorphisms (4678G>C and 6936A>G) in Young Indian DVT Patients [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/role-of-endothelial-protein-c-receptor-gene-polymorphisms-4678gc-and-6936ag-in-young-indian-dvt-patients/. Accessed January 26, 2022.
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