Endothelial protein C receptor gene 6936A/G single‑nucleotide polymorphism as a possible biomarker of thrombotic risk in acute myeloid leukemia

Besbes,Samaher; Althawadi,Hamda; Alfarsi,Halema; Mirshahi,Shahsoltan; Tang,Ruoping; Fava,Fanny; Pardo,Julia; Huessler,Eva‑Maria; Galtier,Thomas; Ghedira,Ibtissem; Soria,Jeannette; Marie,Jean  Pierre; Mirshahi,Massoud

doi:10.3892/mco.2015.638

November-2015 Volume 3 Issue 6

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November-2015 Volume 3 Issue 6

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Article

Endothelial protein C receptor gene 6936A/G single‑nucleotide polymorphism as a possible biomarker of thrombotic risk in acute myeloid leukemia

Authors:
- Samaher Besbes
- Hamda Althawadi
- Halema Alfarsi
- Shahsoltan Mirshahi
- Ruoping Tang
- Fanny Fava
- Julia Pardo
- Eva‑Maria Huessler
- Thomas Galtier
- Ibtissem Ghedira
- Jeannette Soria
- Jean Pierre Marie
- Massoud Mirshahi
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Affiliations: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France, Research and Development, Diagnostica Stago, 92230 Gennevilliers, France, Leukemia Tumor Bank, Saint‑Antoine Hospital, 75012 Paris, France, UMRS 872, Information Sciences to Support Personalized Medicine Group, Cordeliers Research Center, 75006 Paris, France, University of Monastir, Monastir 5000, Tunisia
Pages: 1280-1284
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Published online on: September 8, 2015

https://doi.org/10.3892/mco.2015.638
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Abstract

Protein C (PC) is a natural anticoagulant, which interacts with the endothelial PC receptor (EPCR). EPCR single‑nucleotide polymorphism (SNP) 6936A/G results in high levels of a free soluble form of EPCR (sEPCR) and may affect the risk of coagulation. The objective of this study was to assess whether the 6936A/G SNP of the EPCR gene is involved in the procoagulant activity displayed by hematological malignancies. EPCR 6936A/G polymorphism analysis was performed in 205 patients with hematological malignancies and in 63 healthy controls. All the subjects were genotyped for the EPCR 6936A/G SNP (AA, AG and GG genotypes). The 6936A/G polymorphism distribution was similar between healthy donors and patients. The association between EPCR 6936A/G SNP and thrombosis was investigated in 110 patients. The disease‑wise break‑up revealed that 55 of the patients suffered from acute myeloid leukemia (AML). In AML patients, the incidence of thrombosis was 28.3% and significantly higher in the 6936AG compared with that in the 6936AA genotype (50 vs. 22%, respectively). In conclusion, this study revealed a significant association of the 6936AG genotype of EPCR with thrombotic events in AML. Therefore, the presence of the 6936AG genotype in AML patients may be considered as a risk indicator of thrombosis.

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