Prevalence of a 23bp insertion in exon 3 of the endothelial cell protein C receptor gene in venous thrombophilia.
BACKGROUND
The endothelial cell protein C receptor (EPCR) enhances protein C activation by the thrombin-thrombomodulin complex. As evidence is accumulating that EPCR is an important component of the protein C anticoagulant pathway, polymorphisms in the EPCR gene might be candidate risk factors predisposing to venous thromboembolism (VTE). Recently, a 23bp insertion in exon 3 of the EPCR gene has been identified, which duplicates the preceding 23 bases and results in a STOP codon downstream from the insertion point. However, the clinical significance of this mutation in VTE remains to be clarified.


RESULTS
In this study we evaluated the EPCR 23bp insertion in 889 patients with documented VTE and in 500 healthy controls. The prevalence of the EPCR insertion among patients was 0.1%, which was not significantly different compared to controls (0.6%, p = 0.1).


CONCLUSIONS
Our findings showed that the EPCR 23bp insertion is very rare in both patients with VTE and the general population and failed to support an association between the EPCR 23bp insertion and an increased risk of VTE.
von Depka
M
M
Department of Haematology/Oncology, Hannover Medical School, Germany. depka.mario@mh-hannover.de
Czwalinna
A
A
Eisert
R
R
Wermes
C
C
Scharrer
I
I
Ganser
A
A
Ehrenforth
S
S
D000328:Adult; D001779:Blood Coagulation Factors; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005858:Germany / Q000453:epidemiology; D006801:Humans; D020767:Intracranial Thrombosis / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic; D011655:Pulmonary Embolism / Q000453:epidemiology / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000502:physiology; D012170:Retinal Vein Occlusion / Q000453:epidemiology / Q000235:genetics; D012307:Risk Factors; D013923:Thromboembolism / Q000453:epidemiology / Q000235:genetics*; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000453:epidemiology / Q000235:genetics; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*; D044465:White People / Q000235:genetics
D001779:Blood Coagulation Factors; D011956:Receptors, Cell Surface; C091963:activated protein C receptor