TITLE:
Relation between Endothelial Protein C Receptor Gene Polymorphisms rs867186 and rs9574, and the Risk of Deep Vein Thrombosis in Sudanese
AUTHORS:
Hytham Ahmed Abuagla, Awad Omer Ahmed, Ahmed Kamal Bolad, Khalid Mohamed Adam
KEYWORDS:
Deep Vein Thrombosis, Pulmonary Embolism, EPCR, rs867186, rs9574, Sudanese
JOURNAL NAME:
Open Access Library Journal,
Vol.3 No.1,
January
11,
2016
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)-anti-coagulated 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.