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Study the role of endothelial protein C receptor gene polymorphisms in Indian DVT patients

1All India Institute of Medical Sciences, New Delhi, Delhi, India, 2Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Nordrhein-Westfalen, Germany, 3The Medicity Hospital Gurgaon, gurgaon, Haryana, India, 4University Clinic Bonn, Bonn, Nordrhein-Westfalen, Germany, 5All India Institute of Medical Sciences, Delhi, Delhi, India

Abstract Number: PB1309

Meeting: ISTH 2022 Congress

Theme: Venous Thromboembolism » Genetic Risk Factors of Thrombosis

Background: Endothelial Protein C Receptor (EPCR) is an emerging factor and plays a vital role in the pathogenesis of DVT. It augments PC activation via binding with the thrombin-thrombomodulin complex. EPCR polymorphisms have been reported to influence the risk of DVT whereas their association with Indian DVT patients is not yet studied

Aims: To identify the prevalence of EPCR gene variants (4678G>C, 6936A>G, and 23bp insertion) and their role in Indian DVT patients

Methods: 75 DVT patients (M:37, F:38), median age 45 years range (20-60 years) and similar age and sex-matched healthy controls were studied. EPCR gene variants were detected by allele-specific PCR and sequencing

Results: DVT was seen in the 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 the frequency of variant genotypes (GC, CC) was 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). A 23 bp insertion was absent in all the study subjects

Conclusion(s): The protective role of 4678G>C polymorphism was identified which is similar to previous results obtained from the west, whereas 6936G>A polymorphism has a causative role in DVT. Therefore, 6936G>A polymorphism detection may support in identifying Indians having a high risk of DVT

To cite this abstract in AMA style:

Sharma A, Kishor K, Biswas A, Ranjan R, Kumar R, Tyagi S, Saxena R, Oldenburg J, Mahapatra M. Study the role of endothelial protein C receptor gene polymorphisms in Indian DVT patients [abstract]. https://abstracts.isth.org/abstract/study-the-role-of-endothelial-protein-c-receptor-gene-polymorphisms-in-indian-dvt-patients/. Accessed September 27, 2023.

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