The Effects of Endothelial Protein C Receptor Gene Polymorphisms on the Plasma sEPCR Level in Venous Thrombosis Patients.

Abstract

OBJECTIVE:

The aim of this study was to investigate variations in the endothelial cell protein C receptor gene (EPCRgene) that may play a role in thrombosis and the effects of these variations on the plasma soluble endothelial cell proteinC receptor (sEPCR) level in Turkish patients with venous thrombosis.

MATERIAL AND METHODS:

This study included 111 thrombosis patients and 73 healthy controls. Following DNAextraction, PCR, SSCP, and DNA sequencing analysis of 4 exons of the EPCR gene was performed. Plasma sEPCR wasmeasured via enzyme-linked immunosorbent assay (ELISA).

RESULTS:

In all, 3 polymorphisms were detected in exons 1-4. C3998T (SNP no: rs2069952) polymorphism was detectedin intron 2 and C4678G (A1 haplotype) (SNP no: rs9574) in the 3' untranslated region (3'UTR). There weren't anysignificant differences in C3998T polymorphism between the control and patient groups. There wasn't a significantdifference in plasma sEPCR levels between both controls and patients that carried the A1 allele. A4600G substitution (A3haplotype) (SNP no: rs867186) was observed in exon 4 and was associated with a 2.04-fold higher risk of thrombosis.A3 allele carriers had higher sEPCR levels than those without the allele. Mean sEPCR level in the patients with thehomozygous A3 allele was 289 ng μL-1, versus 113.42 ng μL-1 in those with the homozygous A1 allele.

CONCLUSION:

The A1 haplotype might offer protection against thrombosis and the A3 haplotype might be associatedboth with elevated plasma sEPCR and elevated risk of venous thrombosis in the Turkish population. Plasma sEPCRlevels were significantly higher in those that carried the A3 allele (4600A>G) (both patients and controls). Among theparticipants that carried the A1 allele (4678C>G), plasma sEPCR did not differ significantly.

• Authors: Afife Karabıyık, Erkan Yılmaz, Yonca Eğin, Nejat Akar
• Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology (Turk J Haematol) Vol. 29 Issue 1 Pg. 55-62 (Mar 2012) ISSN: 1300-7777 [Print] Turkey
• PMID: 24744624 (Publication Type: Journal Article)