title: Endothelial protein C receptor gene 6936A/G single-nucleotide polymorphism as a possible biomarker of thrombotic risk in acute myeloid leukemia.
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.
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France.
authors.forename: Samaher
authors.initials: S
authors.lastname: Besbes
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France; Qatar Foundation, Doha 5825, Qatar.
authors.forename: Hamda
authors.initials: H
authors.lastname: Althawadi
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France; Qatar Foundation, Doha 5825, Qatar.
authors.forename: Halema
authors.initials: H
authors.lastname: Alfarsi
authors.affiliation: Research and Development, Diagnostica Stago, 92230 Gennevilliers, France.
authors.forename: Shahsoltan
authors.initials: S
authors.lastname: Mirshahi
authors.affiliation: Leukemia Tumor Bank, Saint-Antoine Hospital, 75012 Paris, France.
authors.forename: Ruoping
authors.initials: R
authors.lastname: Tang
authors.affiliation: Leukemia Tumor Bank, Saint-Antoine Hospital, 75012 Paris, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Fava
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France.
authors.forename: Julia
authors.initials: J
authors.lastname: Pardo
authors.affiliation: UMRS 872, Information Sciences to Support Personalized Medicine Group, Cordeliers Research Center, 75006 Paris, France.
authors.forename: Eva-Maria
authors.initials: EM
authors.lastname: Huessler
authors.affiliation: UMRS 872, Information Sciences to Support Personalized Medicine Group, Cordeliers Research Center, 75006 Paris, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Galtier
authors.affiliation: University of Monastir, Monastir 5000, Tunisia.
authors.forename: Ibtissem
authors.initials: I
authors.lastname: Ghedira
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France.
authors.forename: Jeannette
authors.initials: J
authors.lastname: Soria
authors.affiliation: Leukemia Tumor Bank, Saint-Antoine Hospital, 75012 Paris, France.
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Marie
authors.affiliation: UMR, Paris Diderot, Paris 7 University, Lariboisière Hospital, INSERM U965, 75010 Paris, France.
authors.forename: Massoud
authors.initials: M
authors.lastname: Mirshahi
keywords: 6936A/G single-nucleotide polymorphism; acute myeloid leukemia; endothelial protein C receptor gene; genetic diagnosis; thrombosis