PB1309 - Study the role of endothelial protein C receptor gene polymorphisms in Indian DVT patients

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

Amit Sharma, PhD

Post Doctoral Researcher
All India Institute of Medical Sciences
New Delhi, Delhi, India

Co-Author(s)

Kamal Kishor, PhD

Post Doctorate fellow
All India Institute of Medical Sciences
New Delhi, Delhi, India
Arijit Biswas, PD Dr (Biol)

Scientist
Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn
Bonn, Nordrhein-Westfalen, Germany
RR

Ravi Ranjan

Scientist
ALL INDIA INSTITUT OF MEDICAL SCIENCES, NEW DELHI
New Delhi, Delhi, India
rk

ravi kumar

Scientist
All India Institute of Medical Sciences
New Delhi, Delhi, India
ST

Seema Tyagi

Professor Of Hematology
AIIMS NEW DElhi
DELHI, Delhi, India
RS

Renu Saxena

Professor
Medanta - The Medicity Hospital, Gurgaon, India
Gurgaon, Haryana, India
Johannes Oldenburg

Professor, Chairman and Director
University Clinic Bonn AöR, Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany
Bonn, Nordrhein-Westfalen, Germany
MM

Manoranjan Mahapatra

Professor Of Hematology
AIIMS NEW DELHI
DELHI, Delhi, India

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