Relation between Endothelial Protein C Receptor Gene Polymorphisms rs867186 and rs9574, and the Risk of Deep Vein Thrombosis in Sudanese

Abstract

Background: Deep venous thrombosis (DVT) can lead to a serious fatal pulmonary embolism.

Many genetic risk factors may predispose to DVT; one of these is the mutation in the PROCR gene

responsible for the production of endothelial protein C receptor (EPCR), which plays an important

role in activation of protein C (PC). The objective of the present study was to examine the association

between the rs867186 and rs9574 polymorphism in the PROCR gene and the occurrence of

DVT in Sudanese individuals. Methods: A total of 100 Sudanese DVT patients and 100 apparently

healthy individuals were recruited for this study. Ethylene diamine tetraacetic acie (EDTA)-anticoagulated

blood samples were collected from all participants. Genomic DNA was extracted and

PROCR gene product was amplified by a standard ploymerase chain reaction (PCR) reaction. PCR

products were sequenced to identify PROCR gene polymorphisms. Results: The frequency of mutated

allele of rs867186 was significantly higher in the DVT patient (41%) than in healthy control

(21%). The presence of mutated allele of rs867486 increases the risk of DVT 3 folds. There was no

significant difference in the frequency of mutated allele of rs9574 polymorphism between the DVT

patients and the healthy control subjects. Further, it does not show an increase in the risk of DVT.

The adjustment of gender, ethnic group, and body mass index (BMI) does not change the significance

of each single nucleotide polymorphism (SNP) as a risk factor for DVT. Conclusion: It can be

concluded that Sudanese individuals carrying the mutated allele rs867186 polymorphism were at

risk to develop DVT, while the mutated allele of rs9574 polymorphism is not a risk factor for DVT

in Sudanese individuals.